A437V (p.Ala437Val) variant of CUL3 (Cullin-3)
A437V (p.Ala437Val) in CUL3 (Cullin-3) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Pseudohypoaldosteronism type 2E. The record also includes structural context.
A437V (p.Ala437Val) variant details
- p.Ala437Val
- Ensembl rs2106196912
- Likely pathogenic
- Pseudohypoaldosteronism type 2E
- Missense
- ClinVar: Likely pathogenic (Pseudohypoaldosteronism type 2E)
- UniProt: Likely pathogenic
- Structural context available