G82V (p.Gly82Val) variant of ADD1 (Alpha-adducin)
G82V (p.Gly82Val) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes structural context.
G82V (p.Gly82Val) variant details
- p.Gly82Val
- cosmic curated COSV99296
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 0.88
- MetaLR 0.22
- MetaSVM -0.56
- CADD 29.50
- Structural context available