E53* (p.Glu53Ter) variant of TOP1 (DNA topoisomerase 1)
E53* (p.Glu53Ter) in TOP1 (DNA topoisomerase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
E53* (p.Glu53Ter) variant details
- p.Glu53Ter
- gnomAD 20-41076172-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.876
- CADD 41.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available