A42V (p.Ala42Val) variant of ADD1 (Alpha-adducin)
A42V (p.Ala42Val) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A42V (p.Ala42Val) variant details
- p.Ala42Val
- rs775234697
- gnomAD 4-2876040-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.23
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.14
- MetaSVM -0.91
- CADD 28.70
- Population evidence available
- Structural context available
- Literature evidence available