E22D (p.Glu22Asp) variant of KCNQ4 (P56696)
E22D (p.Glu22Asp) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
E22D (p.Glu22Asp) variant details
- p.Glu22Asp
- gnomAD 1-40784159-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.34
- MetaLR 0.86
- MetaSVM 0.32
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available