G71S (p.Gly71Ser) variant of CYP19A1 (Aromatase)
G71S (p.Gly71Ser) in CYP19A1 (Aromatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G71S (p.Gly71Ser) variant details
- p.Gly71Ser
- cosmic curated COSV99548
- ExAC rs764695319
- TOPMed rs764695319
- gnomAD rs764695319
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.57
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available