M54V (p.Met54Val) variant of CYP19A1 (Aromatase)
M54V (p.Met54Val) in CYP19A1 (Aromatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
M54V (p.Met54Val) variant details
- p.Met54Val
- cosmic curated COSV99547
- ExAC rs781202365
- TOPMed rs781202365
- gnomAD rs781202365
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.20
- CADD 2.50
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available