H49R (p.His49Arg) variant of TOP1 (DNA topoisomerase 1)
H49R (p.His49Arg) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
H49R (p.His49Arg) variant details
- p.His49Arg
- gnomAD 20-41061481-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.09
- MetaLR 0.04
- MetaSVM -1.11
- CADD 23.50
- PolyPhen-2 0.10
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available