E2* (p.Glu2Ter) variant of TOP2A (DNA topoisomerase 2-alpha)
E2* (p.Glu2Ter) in TOP2A (DNA topoisomerase 2-alpha) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
E2* (p.Glu2Ter) variant details
- p.Glu2Ter
- TOPMed rs2035411699
- gnomAD rs2035411699
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.81
- CADD 45.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available