R416H (p.Arg416His) variant of CYP17A1 (P05093)
R416H (p.Arg416His) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of CYP17A1-related disorder; not provided; Deficiency of steroid 17-alpha-monooxyge. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R416H (p.Arg416His) variant details
- p.Arg416His
- rs104894155
- ClinGen CA115203
- ClinVar RCV000001877
- ClinVar RCV000822737
- Pathogenic/Likely pathogenic
- CYP17A1-related disorder; not provided; Deficiency of steroid 17-alpha-monooxyge
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.87
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (CYP17A1-related disorder; not provided; Deficiency of steroid 17)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Two novel mutations found in a patient with 17alpha-hydroxylase enzyme deficiency. (PMID 16849412)