K123* (p.Lys123Ter) variant of TOP2A (DNA topoisomerase 2-alpha)
K123* (p.Lys123Ter) in TOP2A (DNA topoisomerase 2-alpha) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
K123* (p.Lys123Ter) variant details
- p.Lys123Ter
- TOPMed rs1418769357
- gnomAD rs1418769357
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.7
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available