R362H (p.Arg362His) variant of CYP17A1 (P05093)
R362H (p.Arg362His) 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 0.91 / 1. The record also includes population frequency data and structural context.
R362H (p.Arg362His) variant details
- p.Arg362His
- rs752811843
- ClinGen CA5669407
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10088
- Pathogenic/Likely pathogenic
- Deficiency of steroid 17-alpha-monooxygenase; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- REVEL 0.97
- CADD 29.90
- 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 Latino/Admixed American population (allele frequency 0.00013)
- Structural context available