G16V (p.Gly16Val) variant of KCNQ4 (P56696)
G16V (p.Gly16Val) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G16V (p.Gly16Val) variant details
- p.Gly16Val
- gnomAD 1-40784140-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.41
- MetaLR 0.84
- MetaSVM 0.55
- CADD 22.50
- PolyPhen-2 0.05
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available