G117S (p.Gly117Ser) variant of CYP19A1 (Aromatase)
G117S (p.Gly117Ser) in CYP19A1 (Aromatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
G117S (p.Gly117Ser) variant details
- p.Gly117Ser
- cosmic curated COSV53059
- ExAC rs765243938
- TOPMed rs765243938
- gnomAD rs765243938
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.62
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available