S117C (p.Ser117Cys) variant of CYP17A1 (P05093)
S117C (p.Ser117Cys) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Deficiency of steroid 17-alpha-monooxygenase. The record also includes structural context.
S117C (p.Ser117Cys) variant details
- p.Ser117Cys
- rs2493243189
- ClinGen CA377940433
- ClinVar RCV003145973
- Uncertain significance
- Deficiency of steroid 17-alpha-monooxygenase
- Missense
- ClinVar: Uncertain significance (Deficiency of steroid 17-alpha-monooxygenase)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available