A82D (p.Ala82Asp) variant of CYP17A1 (P05093)
A82D (p.Ala82Asp) 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 0.83 / 1. The record also includes population frequency data and structural context.
A82D (p.Ala82Asp) variant details
- p.Ala82Asp
- rs2493245623
- ClinGen CA377940669
- ClinVar RCV003468643
- ClinVar RCV003553987
- Pathogenic/Likely pathogenic
- Deficiency of steroid 17-alpha-monooxygenase; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.85
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Deficiency of steroid 17-alpha-monooxygenase; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available