S5Y (p.Ser5Tyr) variant of ADD1 (Alpha-adducin)
S5Y (p.Ser5Tyr) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S5Y (p.Ser5Tyr) variant details
- p.Ser5Tyr
- gnomAD 4-2875929-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.09
- ESM-1b 1.00
- AlphaMissense 0.18
- MetaLR 0.13
- MetaSVM -0.96
- CADD 24.30
- Population evidence available
- Structural context available
- Literature evidence available