M54T (p.Met54Thr) variant of CYP19A1 (Aromatase)
M54T (p.Met54Thr) in CYP19A1 (Aromatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
M54T (p.Met54Thr) variant details
- p.Met54Thr
- ExAC rs754717741
- gnomAD rs754717741
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.29
- CADD 23.50
- PolyPhen-2 0.14
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available