V170M (p.Val170Met) variant of CLCNKB (Chloride channel protein ClC-Kb)
V170M (p.Val170Met) 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; Bartter disease type 4B; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
V170M (p.Val170Met) variant details
- p.Val170Met
- rs202064075
- ClinGen CA623350
- cosmic curated COSV10530
- ClinVar RCV001780514
- Pathogenic/Likely pathogenic
- Bartter disease type 3; Bartter disease type 4B; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.80
- CADD 26.20
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Bartter disease type 3; Bartter disease type 4B; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available