A128E (p.Ala128Glu) variant of CYP17A1 (P05093)
A128E (p.Ala128Glu) in CYP17A1 (P05093) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A128E (p.Ala128Glu) variant details
- p.Ala128Glu
- ESP rs369461376
- ExAC rs369461376
- TOPMed rs369461376
- gnomAD rs369461376
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.51
- CADD 12.30
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available