A128V (p.Ala128Val) variant of CYP17A1 (P05093)
A128V (p.Ala128Val) in CYP17A1 (P05093) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
A128V (p.Ala128Val) variant details
- p.Ala128Val
- cosmic curated COSV10088
- ESP rs369461376
- ExAC rs369461376
- TOPMed rs369461376
- Missense
- Variant Prioritization Score for Impact Estimate 0.0834
- REVEL 0.09
- CADD 0.05
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Middle Eastern population (allele frequency 0.0032)
- Structural context available