D4T (p.Asp4Thr) variant of TOP1 (DNA topoisomerase 1)
D4T (p.Asp4Thr) in TOP1 (DNA topoisomerase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
D4T (p.Asp4Thr) variant details
- p.Asp4Thr
- gnomAD 20-41029073-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.336
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available