Q11* (p.Gln11Ter) variant of TOP1 (DNA topoisomerase 1)
Q11* (p.Gln11Ter) in TOP1 (DNA topoisomerase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
Q11* (p.Gln11Ter) variant details
- p.Gln11Ter
- gnomAD 20-41029098-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.863
- CADD 40.00
- Population evidence available
- Structural context available
- Literature evidence available