R362C (p.Arg362Cys) variant of CYP17A1 (P05093)
R362C (p.Arg362Cys) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of CYP17A1-related disorder; not provided; Congenital adrenal hyperplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R362C (p.Arg362Cys) variant details
- p.Arg362Cys
- rs104894142
- ClinGen CA115192
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10088
- Pathogenic
- CYP17A1-related disorder; not provided; Congenital adrenal hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- REVEL 0.96
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (CYP17A1-related disorder; not provided; Congenital adrenal hyper)
- EBI: Pathogenic (in AH5)
- UniProt: Pathogenic (in AH5)
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17… (PMID 14671162)
- Cited in: Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase… (PMID 14715827)