E129A (p.Glu129Ala) variant of CYP19A1 (Aromatase)
E129A (p.Glu129Ala) in CYP19A1 (Aromatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
E129A (p.Glu129Ala) variant details
- p.Glu129Ala
- ExAC rs770701615
- gnomAD rs770701615
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.61
- CADD 26.50
- PolyPhen-2 0.94
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available