A130V (p.Ala130Val) variant of CYP17A1 (P05093)
A130V (p.Ala130Val) in CYP17A1 (P05093) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A130V (p.Ala130Val) variant details
- p.Ala130Val
- ExAC rs772285507
- TOPMed rs772285507
- gnomAD rs772285507
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.29
- CADD 17.30
- PolyPhen-2 0.57
- SIFT 0.08
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available