C25S (p.Cys25Ser) variant of CLCNKB (Chloride channel protein ClC-Kb)
C25S (p.Cys25Ser) 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 and structural context.
C25S (p.Cys25Ser) variant details
- p.Cys25Ser
- TOPMed rs1336065376
- gnomAD rs1336065376
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.74
- CADD 23.60
- PolyPhen-2 0.77
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available