R23S (p.Arg23Ser) variant of ADD1 (Alpha-adducin)
R23S (p.Arg23Ser) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R23S (p.Arg23Ser) variant details
- p.Arg23Ser
- rs1171127579
- gnomAD 4-2875984-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.10
- ESM-1b 1.00
- AlphaMissense 0.87
- MetaLR 0.08
- MetaSVM -1.07
- CADD 19.18
- Population evidence available
- Structural context available
- Literature evidence available