R67H (p.Arg67His) variant of CYP17A1 (P05093)
R67H (p.Arg67His) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Deficiency of steroid 17-alpha-monooxygenase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R67H (p.Arg67His) variant details
- p.Arg67His
- rs376074317
- ClinGen CA5669630
- ClinVar RCV001106936
- ESP rs376074317
- Uncertain significance
- Deficiency of steroid 17-alpha-monooxygenase
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.22
- CADD 14.40
- PolyPhen-2 0.48
- SIFT 0.49
- ClinVar: Uncertain significance (Deficiency of steroid 17-alpha-monooxygenase)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available