R17* (p.Arg17Ter) variant of TOP1 (DNA topoisomerase 1)
R17* (p.Arg17Ter) in TOP1 (DNA topoisomerase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R17* (p.Arg17Ter) variant details
- p.Arg17Ter
- gnomAD 20-41029446-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.748
- CADD 38.00
- Population evidence available
- Structural context available
- Literature evidence available