K40K (p.Lys40Lys) variant of TOP1 (DNA topoisomerase 1)
K40K (p.Lys40Lys) in TOP1 (DNA topoisomerase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
K40K (p.Lys40Lys) variant details
- p.Lys40Lys
- gnomAD 20-41061455-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.257
- CADD 9.47
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available