E22Q (p.Glu22Gln) variant of KCNQ4 (P56696)
E22Q (p.Glu22Gln) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E22Q (p.Glu22Gln) variant details
- p.Glu22Gln
- gnomAD 1-40784157-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.31
- MetaLR 0.88
- MetaSVM 0.49
- CADD 18.80
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available