A8V (p.Ala8Val) variant of ADD1 (Alpha-adducin)
A8V (p.Ala8Val) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- rs188077552
- gnomAD 4-2875938-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.00
- MetaSVM -1.04
- CADD 23.80
- Population evidence available
- Structural context available
- Literature evidence available