E139Q (p.Glu139Gln) variant of CYP19A1 (Aromatase)
E139Q (p.Glu139Gln) in CYP19A1 (Aromatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
E139Q (p.Glu139Gln) variant details
- p.Glu139Gln
- ExAC rs755633611
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.04
- CADD 12.10
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available