E442G (p.Glu442Gly) variant of CLCNKB (Chloride channel protein ClC-Kb)
E442G (p.Glu442Gly) 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 syndrome; Bartter disease type 4B; Bartter disease type 3. 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.
E442G (p.Glu442Gly) variant details
- p.Glu442Gly
- rs1180658535
- ClinGen CA338641371
- ClinVar RCV000991835
- ClinVar RCV001195134
- Pathogenic/Likely pathogenic
- Bartter syndrome; Bartter disease type 4B; Bartter disease type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.80
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Bartter syndrome; Bartter disease type 4B; Bartter disease type)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available