R438C (p.Arg438Cys) variant of CLCNKB (Chloride channel protein ClC-Kb)
R438C (p.Arg438Cys) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Bartter disease type 3; not provided; Bartter disease type 4B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R438C (p.Arg438Cys) variant details
- p.Arg438Cys
- rs121909133
- ClinGen CA118914
- NCI-TCGA Cosmic COSV6516
- cosmic curated COSV65160
- Pathogenic
- Bartter disease type 3; not provided; Bartter disease type 4B
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.96
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Bartter disease type 3; not provided; Bartter disease type 4B)
- EBI: Pathogenic (in BARTS3)
- UniProt: Pathogenic (in BARTS3)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. (PMID 11734858)
- Cited in: Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. (PMID 9326936)