V16E (p.Val16Glu) variant of CLCNKB (Chloride channel protein ClC-Kb)
V16E (p.Val16Glu) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
V16E (p.Val16Glu) variant details
- p.Val16Glu
- gnomAD 1-16044539-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.63
- CADD 24.80
- PolyPhen-2 0.95
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available