T94I (p.Thr94Ile) variant of CYP19A1 (Aromatase)
T94I (p.Thr94Ile) in CYP19A1 (Aromatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
T94I (p.Thr94Ile) variant details
- p.Thr94Ile
- ExAC rs753360540
- TOPMed rs753360540
- gnomAD rs753360540
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.72
- CADD 27.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available