R496H (p.Arg496His) variant of CYP17A1 (P05093)
R496H (p.Arg496His) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Deficiency of steroid 17-alpha-monooxygenase; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R496H (p.Arg496His) variant details
- p.Arg496His
- rs763398879
- ClinGen CA5669311
- cosmic curated COSV64005
- ClinVar RCV003468646
- Pathogenic/Likely pathogenic
- Deficiency of steroid 17-alpha-monooxygenase; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.83
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Deficiency of steroid 17-alpha-monooxygenase; not provided)
- 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: 17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation. (PMID 10720067)
- Cited in: Pitfalls in characterizing P450c17 mutations associated with isolated 17,20-lyase deficiency. (PMID 11549685)