A21V (p.Ala21Val) variant of KCNQ4 (P56696)
A21V (p.Ala21Val) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- gnomAD 1-40784155-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.22
- MetaLR 0.68
- MetaSVM 0.07
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available