E22K (p.Glu22Lys) variant of KCNQ4 (P56696)
E22K (p.Glu22Lys) 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.
E22K (p.Glu22Lys) variant details
- p.Glu22Lys
- gnomAD 1-40784157-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.32
- MetaLR 0.87
- MetaSVM 0.30
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available