H33R (p.His33Arg) variant of TOP1 (DNA topoisomerase 1)
H33R (p.His33Arg) 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 and structural context.
H33R (p.His33Arg) variant details
- p.His33Arg
- TOPMed rs1166021854
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.12
- MetaLR 0.08
- MetaSVM -1.13
- CADD 23.50
- PolyPhen-2 0.84
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available