C104* (p.Cys104Ter) variant of TOP2A (DNA topoisomerase 2-alpha)
C104* (p.Cys104Ter) in TOP2A (DNA topoisomerase 2-alpha) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
C104* (p.Cys104Ter) variant details
- p.Cys104Ter
- gnomAD rs1436802127
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.42
- CADD 34.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available