G49D (p.Gly49Asp) variant of CYP19A1 (Aromatase)
G49D (p.Gly49Asp) in CYP19A1 (Aromatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
G49D (p.Gly49Asp) variant details
- p.Gly49Asp
- ExAC rs771106787
- gnomAD rs771106787
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.75
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available