S114F (p.Ser114Phe) variant of CYP21A2 (Steroid 21-hydroxylase)
S114F (p.Ser114Phe) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia; not provided. The record also includes published literature.
S114F (p.Ser114Phe) variant details
- p.Ser114Phe
- Ensembl rs1774969426
- Likely pathogenic
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia; not provided
- Missense
- ClinVar: Likely pathogenic (21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia; not pro)
- EBI: Pathogenic (in AH3)
- UniProt: Pathogenic (in AH3)
- Cited in: Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects. (PMID 27721825)