E3V (p.Glu3Val) variant of KCNQ4 (P56696)
E3V (p.Glu3Val) 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.
E3V (p.Glu3Val) variant details
- p.Glu3Val
- gnomAD 1-40784101-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.36
- MetaLR 0.79
- MetaSVM 0.37
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available