E45E (p.Glu45Glu) variant of TOP1 (DNA topoisomerase 1)
E45E (p.Glu45Glu) in TOP1 (DNA topoisomerase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E45E (p.Glu45Glu) variant details
- p.Glu45Glu
- gnomAD 20-41061470-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.416
- CADD 8.47
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available