H5Q (p.His5Gln) variant of TOP1 (DNA topoisomerase 1)
H5Q (p.His5Gln) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
H5Q (p.His5Gln) variant details
- p.His5Gln
- gnomAD 20-41029082-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.18
- MetaLR 0.03
- MetaSVM -1.05
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available