I18M (p.Ile18Met) variant of TOP2A (DNA topoisomerase 2-alpha)
I18M (p.Ile18Met) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
I18M (p.Ile18Met) variant details
- p.Ile18Met
- TOPMed rs1199340896
- gnomAD rs1199340896
- Missense
- Variant Prioritization Score for Impact Estimate 0.1
- REVEL 0.04
- CADD 14.80
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available