S59P (p.Ser59Pro) variant of ADD1 (Alpha-adducin)
S59P (p.Ser59Pro) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S59P (p.Ser59Pro) variant details
- p.Ser59Pro
- gnomAD 4-2876090-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.27
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.17
- MetaSVM -0.83
- CADD 28.20
- Population evidence available
- Structural context available
- Literature evidence available