I125L (p.Ile125Leu) variant of CYP19A1 (Aromatase)
I125L (p.Ile125Leu) in CYP19A1 (Aromatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
I125L (p.Ile125Leu) variant details
- p.Ile125Leu
- ExAC rs775367580
- TOPMed rs775367580
- gnomAD rs775367580
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.24
- CADD 17.20
- PolyPhen-2 0.18
- SIFT 0.40
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available