A119T (p.Ala119Thr) variant of CYP17A1 (P05093)
A119T (p.Ala119Thr) in CYP17A1 (P05093) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A119T (p.Ala119Thr) variant details
- p.Ala119Thr
- rs774980374
- ExAC rs774980374
- TOPMed rs774980374
- gnomAD rs774980374
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.19
- CADD 8.15
- PolyPhen-2 0.18
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available