S5C (p.Ser5Cys) variant of ADD1 (Alpha-adducin)
S5C (p.Ser5Cys) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S5C (p.Ser5Cys) variant details
- p.Ser5Cys
- gnomAD 4-2875929-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.06
- ESM-1b 0.80
- AlphaMissense 0.12
- MetaLR 0.13
- MetaSVM -0.95
- CADD 24.40
- Population evidence available
- Structural context available
- Literature evidence available