H7Y (p.His7Tyr) variant of TOP1 (DNA topoisomerase 1)
H7Y (p.His7Tyr) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
H7Y (p.His7Tyr) variant details
- p.His7Tyr
- gnomAD 20-41029086-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.15
- MetaLR 0.08
- MetaSVM -1.06
- CADD 24.20
- PolyPhen-2 0.78
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available