E3D (p.Glu3Asp) variant of KCNQ4 (P56696)
E3D (p.Glu3Asp) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E3D (p.Glu3Asp) variant details
- p.Glu3Asp
- gnomAD 1-40784102-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.37
- MetaLR 0.78
- MetaSVM 0.33
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available