P124L (p.Pro124Leu) variant of CLCNKB (Chloride channel protein ClC-Kb)
P124L (p.Pro124Leu) 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 not provided; Bartter disease type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
P124L (p.Pro124Leu) variant details
- p.Pro124Leu
- rs121909131
- ClinGen CA118912
- ClinVar RCV000008029
- ClinVar RCV005089206
- Pathogenic
- not provided; Bartter disease type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.90
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Bartter disease type 3)
- EBI: Pathogenic (in BARTS3)
- UniProt: Pathogenic (in BARTS3)
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. (PMID 10906158)
- Cited in: Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. (PMID 11734858)