Genomic variation can perturb normal biological processes through diverse, context-dependent mechanisms, making multidimensional data integration essential for interpreting variant effects. While millions of missense variants exist within the human proteome, only a tiny fraction currently possess clinical annotations.

ProtVar, developed by the Protein Function Development at EMBL-EBI, is a human variant annotation and assessment resource that bridges genomic coordinates, protein sequences, structures, and functional data. It aggregates curated insights and predictions from sources including UniProt, Ensembl, PDBe, Open Targets, and AlphaFoldDB.

Having recently evolved from a single variant lookup tool into a proteome-wide discovery engine, ProtVar now allows researchers to search, filter, and contextualise over 500 million potential human missense variants. Featuring new AI-powered real-time semantic search, ProtVar maps plain language queries such as disease terms, pathways, or drug responses e.g., "Warfarin sensitivity", directly to functional and structural mechanisms.

This webinar will provide practical guidance on using ProtVar to explore missense variation. It will feature live demonstrations of its new discovery features, including real-time AI searching, multi-criteria filtering across all potential variants in the proteome, structural visualisations, and data export options.

This event is part of the broader "UniProt 2026-2027" series. You can follow the link for more information about the series and its webinars.