F435S (p.Phe435Ser) variant of CYP17A1 (P05093)
F435S (p.Phe435Ser) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Deficiency of steroid 17-alpha-monooxygenase; not provided. The record also includes structural context.
F435S (p.Phe435Ser) variant details
- p.Phe435Ser
- rs2493234387
- ClinGen CA377938260
- ClinVar RCV003837781
- Pathogenic/Likely pathogenic
- Deficiency of steroid 17-alpha-monooxygenase; not provided
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Deficiency of steroid 17-alpha-monooxygenase; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available