R347C (p.Arg347Cys) variant of CYP17A1 (P05093)
R347C (p.Arg347Cys) 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; Congenital adrenal h. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R347C (p.Arg347Cys) variant details
- p.Arg347Cys
- rs104894149
- ClinGen CA115191
- NCI-TCGA Cosmic COSV6400
- ClinVar RCV000001867
- Pathogenic
- not provided; Deficiency of steroid 17-alpha-monooxygenase; Congenital adrenal h
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.70
- AlphaMissense 0.94
- MetaLR 0.46
- MetaSVM -0.00
- CADD 25.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic (not provided; Deficiency of steroid 17-alpha-monooxygenase; Cong)
- EBI: Pathogenic (in AH5)
- UniProt: Pathogenic (in AH5)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations… (PMID 12466376)
- Cited in: 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia. (PMID 20301350)