V24G (p.Val24Gly) variant of KCNQ4 (P56696)
V24G (p.Val24Gly) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
V24G (p.Val24Gly) variant details
- p.Val24Gly
- gnomAD 1-40784164-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.50
- MetaLR 0.88
- MetaSVM 0.65
- CADD 23.40
- PolyPhen-2 0.13
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available