G437R (p.Gly437Arg) variant of CLCNKB (Chloride channel protein ClC-Kb)
G437R (p.Gly437Arg) 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 0.83 / 1. The record also includes population frequency data and structural context.
G437R (p.Gly437Arg) variant details
- p.Gly437Arg
- rs755714542
- ExAC rs755714542
- TOPMed rs755714542
- gnomAD rs755714542
- Pathogenic/Likely pathogenic
- Bartter disease type 3; Bartter disease type 4B; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.96
- CADD 25.10
- PolyPhen-2 0.75
- 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