H5T (p.His5Thr) variant of TOP1 (DNA topoisomerase 1)
H5T (p.His5Thr) in TOP1 (DNA topoisomerase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
H5T (p.His5Thr) variant details
- p.His5Thr
- gnomAD 20-41029078-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.628
- CADD 27.20
- Population evidence available
- Structural context available
- Literature evidence available