A66S (p.Ala66Ser) variant of ADD1 (Alpha-adducin)
A66S (p.Ala66Ser) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A66S (p.Ala66Ser) variant details
- p.Ala66Ser
- gnomAD 4-2881898-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.13
- MetaSVM -1.07
- CADD 28.70
- Population evidence available
- Structural context available
- Literature evidence available