P409R (p.Pro409Arg) variant of CYP17A1 (P05093)
P409R (p.Pro409Arg) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.82 / 1. The record also includes population frequency data and structural context.
P409R (p.Pro409Arg) variant details
- p.Pro409Arg
- rs367833709
- ClinGen CA5669371
- ClinVar RCV001780601
- ClinVar RCV001885149
- Pathogenic
- Deficiency of steroid 17-alpha-monooxygenase; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.85
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Deficiency of steroid 17-alpha-monooxygenase; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00058)
- Structural context available