R449H (p.Arg449His) variant of CYP17A1 (P05093)
R449H (p.Arg449His) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.63 / 1. The record also includes population frequency data and structural context.
R449H (p.Arg449His) variant details
- p.Arg449His
- rs752164207
- ClinGen CA5669338
- ClinVar RCV002795735
- ClinVar RCV004571254
- Likely pathogenic
- not provided; Deficiency of steroid 17-alpha-monooxygenase
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.50
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Deficiency of steroid 17-alpha-monooxygenase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available