G424R (p.Gly424Arg) variant of CLCNKB (Chloride channel protein ClC-Kb)
G424R (p.Gly424Arg) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Bartter disease type 4B; Bartter disease type 3; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
G424R (p.Gly424Arg) variant details
- p.Gly424Arg
- rs769163950
- ClinGen CA623774
- ClinVar RCV001281172
- ClinVar RCV005050315
- Likely pathogenic
- Bartter disease type 4B; Bartter disease type 3; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- REVEL 0.97
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Bartter disease type 4B; Bartter disease type 3; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available