E442K (p.Glu442Lys) variant of CLCNKB (Chloride channel protein ClC-Kb)
E442K (p.Glu442Lys) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Bartter disease type 3. The record also includes structural context.
E442K (p.Glu442Lys) variant details
- p.Glu442Lys
- rs2524389961
- ClinGen CA338641368
- ClinVar RCV003988660
- Likely pathogenic
- Bartter disease type 3
- Missense
- ClinVar: Likely pathogenic (Bartter disease type 3)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available