C442R (p.Cys442Arg) variant of CYP17A1 (P05093)
C442R (p.Cys442Arg) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Deficiency of steroid 17-alpha-monooxygenase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
C442R (p.Cys442Arg) variant details
- p.Cys442Arg
- cosmic curated COSV64004
- gnomAD rs1269372676
- Likely pathogenic
- Deficiency of steroid 17-alpha-monooxygenase
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.97
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Deficiency of steroid 17-alpha-monooxygenase)
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available