G23V (p.Gly23Val) variant of CLCNKB (Chloride channel protein ClC-Kb)
G23V (p.Gly23Val) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G23V (p.Gly23Val) variant details
- p.Gly23Val
- gnomAD 1-16044560-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.46
- CADD 16.50
- PolyPhen-2 0.28
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available