Atlas of Variant Effects Alliance:
Precision medicine at nucleotide resolution

Art by Uta Mackensen (CC BY-ND) Image Description: Background: A world map and chromosome idiogram. Foreground: People moving amongst and inspecting larger than life Variant Effect Maps of clinically important genes BRCA1, HMBS, MTHFR and TDP-43.

The vision of the Alliance is to create comprehensive variant effect maps for important regions of human and human pathogen genomes that could ultimately assist in the diagnosis, prognosis and treatment of disease. The goal of our Alliance is to bring together data generators, curators and consumers, along with funders and other stakeholders, to set standards, share tools and develop strategy.

By describing the effects of variants in the genome, the atlas will accelerate and empower biological research, drug discovery and medical practice.

Graphic Credits: kjpargeter Freepik, Sayeh Gorjifard and Uta Mackensen

Join us

The Alliance welcomes individuals from academia, industry, government or other entities anywhere in the world

Variant Effects Seminar Series

In this series, early-career scientists from around the globe share and discuss their research related to interpreting human genetic variation

Mutational Scanning Symposium

9th Annual Mutational Scanning Symposium in Melbourne, Australia

Latest Event

10th Annual Mutational Scanning Symposium 2027

23 June 2027, Seattle WA USA.

We hope you can join us!

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Latest AVE Mention in the News

Variant effect predictors: AVE's resource expands into non-coding territory

7 October 2026.

AVE's Analysis, Modelling and Prediction (AMP) workstream has recently delivered a major expansion of one of its most-used tools: a resource cataloguing computational models for predicting variant effects. Previously covering coding variants, the resource now also covers non-coding predictors, an area of interest which is growing rapidly. We spoke to Prof. Joe Marsh (Institute of Genetics and Cancer, University of Edinburgh) about how the resource was developed, what makes non-coding predictors so different from their coding counterparts, and whether VEPs will ever replace deep mutational scanning.

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Latest Seminars

Making MAVEs clinically actionable: Functional data generation and variant classification with MaveMD

3 November 2026.

Abbye Elizabeth McEwen, MD, PhD, is a board-certified Molecular Genetic Pathologist and functional genomics researcher based in Seattle, Washington. She completed her MD/PhD at Northwestern, and her pathology residency and Molecular Genetic Pathology fellowship at UW, where she spent four years as an attending physician on the Clinical Exome Service. Her research focuses on bringing multiplexed assay of variant effect data into clinical variant classification.

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Making MAVEs clinically actionable: Functional data generation and variant classification with MaveMD

3 November 2026.

Pankhuri Gupta is a Research Genetic Counselor at the University of Washington (UW) with experience in variant interpretation, long-read sequencing, and translational genomic medicine. In her current role, she leads efforts to reclassify variants of uncertain significance within the Brotman Baty Institute Clinical Variant Database, which includes clinical genetic data from UW and Fred Hutch patients. She also curates functional datasets and develops training modules on the use of functional evidence. Pankhuri, alongside her colleagues at the University of Washington...more

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