H22R (p.His22Arg) variant of TOP1 (DNA topoisomerase 1)
H22R (p.His22Arg) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
H22R (p.His22Arg) variant details
- p.His22Arg
- TOPMed rs958350596
- gnomAD rs958350596
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.15
- MetaLR 0.08
- MetaSVM -1.13
- CADD 23.70
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available