A130T (p.Ala130Thr) variant of CYP17A1 (P05093)
A130T (p.Ala130Thr) in CYP17A1 (P05093) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A130T (p.Ala130Thr) variant details
- p.Ala130Thr
- gnomAD rs1171685818
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.10
- CADD 9.71
- PolyPhen-2 0.10
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available