ProtVar

@ProtVar is excited to be involved in the FGx-PTMv research cluster of the new @UKRI_News Human Functional Genomics Initiative. We can't wait to offer our users new experimental evidence to support the interpretation of their variants. @BBSRC @The_MRC x.com/The_MRC/status…

Update: We’ve added more pathogenicity predictors together with a coordinated categorisation of colours. Plus, you are able to retrieve data via the new ‘predictions’ API endpoint. Take a look: ebi.ac.uk/ProtVar #geneticvariation #alphamissense

AlphaMissense data integrated into ProtVar to further help to contextualise missense variation ebi.ac.uk/about/news/tec… via @emblebi ebi.ac.uk/ProtVar

ProtVar: mapping and contextualizing human missense variation academic.oup.com/nar/article/do…

ProtVar has now expanded the inputs it can process to increase flexibility for users to include cDNA, HGVSp and several gene/protein IDs. Try for yourself to see if ProtVar can help you map, contextualise and interpret your human missense variants at ebi.ac.uk/protvar

29/06/2023 UPDATE - fixed unable to select build version issue in UI - reloaded foldx data to fix issue of data not appearing in UI/API - filter foldx data to show score for correct variant AA - fixed interaction model endpoint failure - added link to webinar video in about page

Introducing ProtVar - a powerful new web tool that streamlines the interpretation of human missense variation. Access the ProtVar web tool and REST API from today, and register for tomorrow's official launch webinar (link in next tweet). ebi.ac.uk/about/news/tec… #drugdiscovery

- added variantAA filter to Foldx and functional annotation endpoints - added direct variant link using search terms

21/06/2023 UPDATE - improve foldx coverage to 208M (from 5.9M) predicted values covering all 19 possible mutations - bug fix: ensure that GRCh37 build is correctly used in the download - bug fix: missing fields added to generated download

30/05/2023 UPDATE: We have made some fixes and changes since the release on May 24th. - novel predictions now in downloaded result files - fixed failure of some large files due to a bug - added a max. file limit of 10MB to cope with load