G10V (p.Gly10Val) variant of CLCNKB (Chloride channel protein ClC-Kb)
G10V (p.Gly10Val) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bartter disease type 3; Bartter disease type 4B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
G10V (p.Gly10Val) variant details
- p.Gly10Val
- TOPMed rs1022537062
- gnomAD rs1022537062
- Uncertain significance
- Bartter disease type 3; Bartter disease type 4B
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.76
- CADD 23.80
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Uncertain significance (Bartter disease type 3; Bartter disease type 4B)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available