E22V (p.Glu22Val) variant of KCNQ4 (P56696)
E22V (p.Glu22Val) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E22V (p.Glu22Val) variant details
- p.Glu22Val
- gnomAD 1-40784158-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.33
- MetaLR 0.89
- MetaSVM 0.61
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available