R17Q (p.Arg17Gln) variant of TOP1 (DNA topoisomerase 1)
R17Q (p.Arg17Gln) 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.
R17Q (p.Arg17Gln) variant details
- p.Arg17Gln
- ExAC rs761127035
- TOPMed rs761127035
- gnomAD rs761127035
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.16
- MetaLR 0.09
- MetaSVM -1.06
- CADD 29.60
- PolyPhen-2 0.89
- SIFT 0.11
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available