E53E (p.Glu53Glu) variant of TOP1 (DNA topoisomerase 1)
E53E (p.Glu53Glu) in TOP1 (DNA topoisomerase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E53E (p.Glu53Glu) variant details
- p.Glu53Glu
- rs773155637
- gnomAD 20-41076174-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.309
- CADD 13.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available