H7Q (p.His7Gln) variant of TOP1 (DNA topoisomerase 1)
H7Q (p.His7Gln) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
H7Q (p.His7Gln) variant details
- p.His7Gln
- gnomAD 20-41029088-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.15
- MetaLR 0.07
- MetaSVM -1.09
- CADD 23.70
- PolyPhen-2 0.88
- SIFT 0.10
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available