H69R (p.His69Arg) variant of TOP1 (DNA topoisomerase 1)
H69R (p.His69Arg) 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 and structural context.
H69R (p.His69Arg) variant details
- p.His69Arg
- ExAC rs751566633
- TOPMed rs751566633
- gnomAD rs751566633
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.05
- MetaLR 0.05
- MetaSVM -1.11
- CADD 24.60
- PolyPhen-2 0.60
- SIFT 0.14
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available