H5P (p.His5Pro) variant of TOP1 (DNA topoisomerase 1)
H5P (p.His5Pro) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
H5P (p.His5Pro) variant details
- p.His5Pro
- gnomAD 20-41029081-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.06
- MetaLR 0.04
- MetaSVM -1.09
- CADD 24.80
- PolyPhen-2 0.05
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available