R416C (p.Arg416Cys) variant of CYP17A1 (P05093)
R416C (p.Arg416Cys) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.89 / 1. The record also includes population frequency data and structural context.
R416C (p.Arg416Cys) variant details
- p.Arg416Cys
- rs1178684770
- ClinGen CA377938381
- cosmic curated COSV10969
- ClinVar RCV003557533
- Pathogenic
- not provided; Deficiency of steroid 17-alpha-monooxygenase
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.94
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Deficiency of steroid 17-alpha-monooxygenase)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 3.4e-05)
- Structural context available