R438G (p.Arg438Gly) variant of CUL3 (Cullin-3)
R438G (p.Arg438Gly) in CUL3 (Cullin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pseudohypoaldosteronism type 2E. The record also includes published literature and structural context.
R438G (p.Arg438Gly) variant details
- p.Arg438Gly
- rs2469974393
- ClinVar RCV004594728
- Pathogenic
- Pseudohypoaldosteronism type 2E
- Missense
- ClinVar: Pathogenic (Pseudohypoaldosteronism type 2E)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Pseudohypoaldosteronism Type II. (PMID 22073419)