C25V (p.Cys25Val) variant of CLCNKB (Chloride channel protein ClC-Kb)
C25V (p.Cys25Val) in CLCNKB (Chloride channel protein ClC-Kb) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
C25V (p.Cys25Val) variant details
- p.Cys25Val
- gnomAD 1-16044560-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.524
- CADD 16.40
- Population evidence available
- Structural context available
- Literature evidence available