C25Y (p.Cys25Tyr) variant of CLCNKB (Chloride channel protein ClC-Kb)
C25Y (p.Cys25Tyr) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
C25Y (p.Cys25Tyr) variant details
- p.Cys25Tyr
- gnomAD rs1212383858
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.78
- CADD 23.40
- PolyPhen-2 0.68
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available