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

Human proteome-wide mechanistic interpretation of missense variants through protein feature enrichment score

6 October 2026.

Seulki is a research scientist at the Bioinformatics and Machine Learning group at the Broad Institute of MIT and Harvard. Her research focuses on connecting genetic variant data to protein structure and function by using bioinformatics and computational biophysics methodologies. Her talk will focus on the protein feature enrichment score (PFES), a proteome-wide scoring framework that leverages protein features to mechanistically interpret missense variants and their impact on protein function.

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Systematic mutational mapping reveals optimal amyloid formation for RIPK function

6 October 2026.

Mariano is a senior postdoc in Benedetta Bolognesi's lab at the Institute for Bioengineering in Catalonia (IBEC). He obtained his degree in molecular biology (University of Buenos Aires) and his PhD (National University of Cordoba) in Argentina. Since his early career steps, he has focused on understanding how sequence variation impact protein function. Currently, he is studying how mutations affect amyloid formation, in both pathological and functional amyloids.

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