R79G (p.Arg79Gly) variant of CYP19A1 (Aromatase)
R79G (p.Arg79Gly) in CYP19A1 (Aromatase) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R79G (p.Arg79Gly) variant details
- p.Arg79Gly
- ExAC rs759823444
- TOPMed rs759823444
- gnomAD rs759823444
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.30
- CADD 17.40
- PolyPhen-2 0.07
- SIFT 0.03
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available