V5A (p.Val5Ala) variant of CLCNKB (Chloride channel protein ClC-Kb)
V5A (p.Val5Ala) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
V5A (p.Val5Ala) variant details
- p.Val5Ala
- gnomAD 1-16044506-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.40
- CADD 20.60
- PolyPhen-2 0.34
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available