R57M (p.Arg57Met) variant of ADD1 (Alpha-adducin)
R57M (p.Arg57Met) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R57M (p.Arg57Met) variant details
- p.Arg57Met
- rs1224720801
- gnomAD 4-2876085-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.25
- MetaSVM -0.45
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available