K459M (p.Lys459Met) variant of CUL3 (Cullin-3)
K459M (p.Lys459Met) 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 structural context.
K459M (p.Lys459Met) variant details
- p.Lys459Met
- cosmic curated COSV52365
- Ensembl rs199469658
- Pathogenic
- Pseudohypoaldosteronism type 2E
- Missense
- ClinVar: Pathogenic (Pseudohypoaldosteronism type 2E)
- EBI: Pathogenic (in PHA2E)
- UniProt: Pathogenic (in PHA2E)
- Structural context available