R44Q (p.Arg44Gln) variant of TOP1 (DNA topoisomerase 1)
R44Q (p.Arg44Gln) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R44Q (p.Arg44Gln) variant details
- p.Arg44Gln
- TOPMed rs1316906747
- gnomAD rs1316906747
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.17
- MetaLR 0.11
- MetaSVM -1.08
- CADD 28.60
- PolyPhen-2 0.89
- SIFT 0.17
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available