S5F (p.Ser5Phe) variant of ADD1 (Alpha-adducin)
S5F (p.Ser5Phe) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S5F (p.Ser5Phe) variant details
- p.Ser5Phe
- gnomAD 4-2875929-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.08
- ESM-1b 1.00
- AlphaMissense 0.17
- MetaLR 0.12
- MetaSVM -0.98
- CADD 24.70
- Population evidence available
- Structural context available
- Literature evidence available