R347H (p.Arg347His) variant of CYP17A1 (P05093)
R347H (p.Arg347His) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R347H (p.Arg347His) variant details
- p.Arg347His
- rs61754278
- ClinGen CA115184
- NCI-TCGA Cosmic COSV6400
- cosmic curated COSV64004
- Pathogenic
- not provided; Deficiency of steroid 17-alpha-monooxygenase
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.70
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Deficiency of steroid 17-alpha-monooxygenase)
- EBI: Pathogenic (in AH5)
- UniProt: Pathogenic (in AH5)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Pitfalls in characterizing P450c17 mutations associated with isolated 17,20-lyase deficiency. (PMID 11549685)
- Cited in: Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations… (PMID 12466376)