H7R (p.His7Arg) variant of TOP1 (DNA topoisomerase 1)
H7R (p.His7Arg) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
H7R (p.His7Arg) variant details
- p.His7Arg
- ExAC rs771124146
- gnomAD rs771124146
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.11
- MetaLR 0.07
- MetaSVM -1.11
- CADD 23.70
- PolyPhen-2 0.84
- SIFT 0.18
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available