A18V (p.Ala18Val) variant of ADD1 (Alpha-adducin)
A18V (p.Ala18Val) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- rs759011632
- gnomAD 4-2875968-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.04
- MetaSVM -1.07
- CADD 23.10
- Population evidence available
- Structural context available
- Literature evidence available