A349D (p.Ala349Asp) variant of CLCNKB (Chloride channel protein ClC-Kb)
A349D (p.Ala349Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
A349D (p.Ala349Asp) variant details
- p.Ala349Asp
- rs121909134
- ClinGen CA118915
- cosmic curated COSV10468
- ClinVar RCV000008032
- Pathogenic
- Bartter disease type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.93
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Bartter disease type 3)
- 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)