A2V (p.Ala2Val) variant of KCNQ4 (P56696)
A2V (p.Ala2Val) in KCNQ4 (P56696) 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.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD 1-40784098-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.32
- MetaLR 0.80
- MetaSVM 0.39
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available