H5L (p.His5Leu) variant of TOP1 (DNA topoisomerase 1)
H5L (p.His5Leu) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
H5L (p.His5Leu) variant details
- p.His5Leu
- gnomAD 20-41029081-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.07
- MetaLR 0.04
- MetaSVM -1.10
- CADD 24.60
- PolyPhen-2 0.03
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available