D79V (p.Asp79Val) variant of PYGM (P11217)
D79V (p.Asp79Val) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
D79V (p.Asp79Val) variant details
- p.Asp79Val
- Ensembl rs2058420265
- Missense
- Variant Prioritization Score for Impact Estimate 0.987
- ESM-1b 1.00
- AlphaMissense 0.97
- Structural context available