H33Y (p.His33Tyr) variant of TOP1 (DNA topoisomerase 1)
H33Y (p.His33Tyr) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
H33Y (p.His33Tyr) variant details
- p.His33Tyr
- TOPMed rs1364036505
- gnomAD rs1364036505
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.12
- MetaLR 0.07
- MetaSVM -1.16
- CADD 23.20
- SIFT 0.15
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available