R79Q (p.Arg79Gln) variant of CYP19A1 (Aromatase)
R79Q (p.Arg79Gln) in CYP19A1 (Aromatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
R79Q (p.Arg79Gln) variant details
- p.Arg79Gln
- cosmic curated COSV53058
- ExAC rs770854903
- TOPMed rs770854903
- gnomAD rs770854903
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.07
- CADD 10.20
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available