E41del (p.Glu41del) variant of TOP1 (DNA topoisomerase 1)
E41del (p.Glu41del) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
E41del (p.Glu41del) variant details
- gnomAD 20-41061453-AAGG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.585
- CADD 20.10
- Population evidence available
- Structural context available
- Literature evidence available