M60K (p.Met60Lys) variant of ADD1 (Alpha-adducin)
M60K (p.Met60Lys) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes structural context.
M60K (p.Met60Lys) variant details
- p.Met60Lys
- cosmic curated COSV99296
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.24
- ESM-1b 1.00
- AlphaMissense 0.87
- MetaLR 0.15
- MetaSVM -0.92
- CADD 24.80
- Structural context available