Functional prediction of variants using ProtVar

Trainer: James Stephenson

Overview:

This lecture introduces ProtVar and related resources in UniProt for the contextualisation and interpretation of missense variation in humans. It explores how functional and structural annotations coupled with predictions can help to identify the probability of variants affecting the protein and the mechanism of the subsequent effect on health.

Learning outcomes:

By the end of this session you will be able to:

  • Summarise the main features of the ProtVar resource for interpretation of missense variation
  • Map variants from coordinates to proteins and their structures

Materials