R449C (p.Arg449Cys) variant of CYP17A1 (P05093)
R449C (p.Arg449Cys) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Deficiency of steroid 17-alpha-monooxygenase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
R449C (p.Arg449Cys) variant details
- p.Arg449Cys
- rs371825363
- ClinGen CA5669339
- cosmic curated COSV64005
- ClinVar RCV002045625
- Pathogenic/Likely pathogenic
- not provided; Deficiency of steroid 17-alpha-monooxygenase
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- REVEL 0.71
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Deficiency of steroid 17-alpha-monooxygenase)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available