A204T (p.Ala204Thr) variant of CLCNKB (Chloride channel protein ClC-Kb)
A204T (p.Ala204Thr) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Bartter disease type 3; not provided; Bartter syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
A204T (p.Ala204Thr) variant details
- p.Ala204Thr
- rs121909132
- ClinGen CA118913
- NCI-TCGA Cosmic COSV6516
- ClinVar RCV000008030
- Pathogenic/Likely pathogenic
- Bartter disease type 3; not provided; Bartter syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.72
- CADD 24.50
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Bartter disease type 3; not provided; Bartter syndrome)
- EBI: Pathogenic (in BARTS3)
- UniProt: Pathogenic (in BARTS3)
- Most common in the African/African-American population (allele frequency 0.00041)
- 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)