K40del (p.Lys40del) variant of TOP1 (DNA topoisomerase 1)
K40del (p.Lys40del) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
K40del (p.Lys40del) variant details
- gnomAD 20-41061449-CAAG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.513
- CADD 19.50
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available