E371K (p.Glu371Lys) variant of CYP11B1 (P15538)
E371K (p.Glu371Lys) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital adrenal hyperplasia; Deficiency of steroid 11-beta-monooxygenase; Glu. The record also includes structural context.
E371K (p.Glu371Lys) variant details
- p.Glu371Lys
- rs2488676492
- ClinVar RCV004586335
- ClinVar RCV005040709
- Likely pathogenic
- Congenital adrenal hyperplasia; Deficiency of steroid 11-beta-monooxygenase; Glu
- Missense
- ClinVar: Likely pathogenic (Congenital adrenal hyperplasia; Deficiency of steroid 11-beta-mo)
- EBI: Likely pathogenic (in AH4)
- UniProt: Likely pathogenic (in AH4)
- Structural context available