E22G (p.Glu22Gly) variant of KCNQ4 (P56696)
E22G (p.Glu22Gly) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E22G (p.Glu22Gly) variant details
- p.Glu22Gly
- Ensembl rs2148830560
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.33
- MetaLR 0.82
- MetaSVM 0.30
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.05
- Population evidence available
- Structural context available