E20D (p.Glu20Asp) variant of CLCNKB (Chloride channel protein ClC-Kb)
E20D (p.Glu20Asp) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
E20D (p.Glu20Asp) variant details
- p.Glu20Asp
- gnomAD 1-16044552-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.55
- CADD 22.00
- PolyPhen-2 0.81
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available