G131D (p.Gly131Asp) variant of CYP19A1 (Aromatase)
G131D (p.Gly131Asp) in CYP19A1 (Aromatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
G131D (p.Gly131Asp) variant details
- p.Gly131Asp
- gnomAD rs1287757971
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.77
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available