C25R (p.Cys25Arg) variant of CLCNKB (Chloride channel protein ClC-Kb)
C25R (p.Cys25Arg) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
C25R (p.Cys25Arg) variant details
- p.Cys25Arg
- gnomAD 1-16044565-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.75
- CADD 23.20
- PolyPhen-2 0.93
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available