E9D (p.Glu9Asp) variant of CLCNKB (Chloride channel protein ClC-Kb)
E9D (p.Glu9Asp) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E9D (p.Glu9Asp) variant details
- p.Glu9Asp
- gnomAD 1-16044519-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.32
- CADD 10.70
- PolyPhen-2 0.06
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available