L26V (p.Leu26Val) variant of KCNQ4 (P56696)
L26V (p.Leu26Val) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L26V (p.Leu26Val) variant details
- p.Leu26Val
- gnomAD 1-40784169-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.27
- MetaLR 0.90
- MetaSVM 0.62
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available