H5Y (p.His5Tyr) variant of TOP1 (DNA topoisomerase 1)
H5Y (p.His5Tyr) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
H5Y (p.His5Tyr) variant details
- p.His5Tyr
- gnomAD 20-41029080-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.09
- CADD 23.30
- PolyPhen-2 0.07
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available