M54I (p.Met54Ile) variant of CYP19A1 (Aromatase)
M54I (p.Met54Ile) in CYP19A1 (Aromatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
M54I (p.Met54Ile) variant details
- p.Met54Ile
- gnomAD rs1348335157
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.18
- CADD 22.00
- PolyPhen-2 0.03
- SIFT 0.10
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available