R79W (p.Arg79Trp) variant of CYP19A1 (Aromatase)
R79W (p.Arg79Trp) 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 0.34 / 1. The record also includes population frequency data and structural context.
R79W (p.Arg79Trp) variant details
- p.Arg79Trp
- ExAC rs759823444
- TOPMed rs759823444
- gnomAD rs759823444
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.35
- CADD 23.10
- PolyPhen-2 0.88
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00034)
- Structural context available