Genomic variation can impact normal biological function in complex ways and so understanding variant effects requires a broad range of data to be coherently assimilated. Understanding variation in proteins offers unique opportunities over and above diagnostics such as identifying drug targets and synthetic biology applications, however it also poses unique challenges which is why most missense variation remain of unknown effect.

ProtVar is a new, updated and maintained human variant annotation and assessment web tool which offers users unparalleled flexibility and ease of accessibility and integration. It combines data and analyses from a plethora of resources to bring together genomic, protein sequence, functional as well as structural insights and predictions to better understand the potential effects of missense variation on humans.

This webinar will cover the variety of data types which can be used to access ProtVar and the ways in which such data can be submitted. It will also cover the annotation and prediction types available, as well as the visualisations available and the methods by which data can be retrieved.