p.Lys27 Asp30del variant of TOP1 (DNA topoisomerase 1)
p.Lys27 Asp30del in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
p.Lys27 Asp30del variant details
- rs773155066
- gnomAD 20-41061399-CATAA
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.726
- CADD 20.70
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available