M127I (p.Met127Ile) variant of CYP19A1 (Aromatase)
M127I (p.Met127Ile) in CYP19A1 (Aromatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
M127I (p.Met127Ile) variant details
- p.Met127Ile
- gnomAD rs1194244251
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.66
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available