G126R (p.Gly126Arg) variant of CYP19A1 (Aromatase)
G126R (p.Gly126Arg) in CYP19A1 (Aromatase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
G126R (p.Gly126Arg) variant details
- p.Gly126Arg
- ExAC rs745845217
- TOPMed rs745845217
- gnomAD rs745845217
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.76
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available