G35C (p.Gly35Cys) variant of CLCNKB (Chloride channel protein ClC-Kb)
G35C (p.Gly35Cys) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
G35C (p.Gly35Cys) variant details
- p.Gly35Cys
- TOPMed rs1392045264
- gnomAD rs1392045264
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.16
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.64
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available