H49Y (p.His49Tyr) variant of TOP1 (DNA topoisomerase 1)
H49Y (p.His49Tyr) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
H49Y (p.His49Tyr) variant details
- p.His49Tyr
- gnomAD 20-41061480-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.07
- MetaLR 0.04
- MetaSVM -1.11
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available