T44A (p.Thr44Ala) variant of CYP19A1 (Aromatase)
T44A (p.Thr44Ala) in CYP19A1 (Aromatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
T44A (p.Thr44Ala) variant details
- p.Thr44Ala
- TOPMed rs1228751227
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.06
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available