I47M (p.Ile47Met) variant of CYP19A1 (Aromatase)
I47M (p.Ile47Met) in CYP19A1 (Aromatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
I47M (p.Ile47Met) variant details
- p.Ile47Met
- TOPMed rs1291979918
- gnomAD rs1291979918
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.56
- CADD 22.20
- PolyPhen-2 0.42
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available