Discovery and Variant Effect Prediction with the next generation of ProtVar

Interpreting human missense variants requires connecting genomic coordinates with protein sequences, structures and functional evidence. ProtVar integrates annotations and predictions from UniProt, Ensembl, PDBe, Open Targets and AlphaFoldDB, extending variant lookup to discovery across more than 500 million potential missense variants. This seminar demonstrates natural-language searches using diseases, pathways and drug responses, multi-criteria filtering, structural visualisation and data export. Participants will learn to prioritise variants, interpret their structural and functional effects, and retrieve data through web downloads or the REST API. The session serves geneticists, drug-discovery researchers and computational biologists; undergraduate molecular biology and genetics are recommended.