R17L (p.Arg17Leu) variant of TOP1 (DNA topoisomerase 1)
R17L (p.Arg17Leu) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R17L (p.Arg17Leu) variant details
- p.Arg17Leu
- ExAC rs761127035
- TOPMed rs761127035
- gnomAD rs761127035
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.21
- MetaLR 0.09
- MetaSVM -1.03
- CADD 30.00
- PolyPhen-2 0.93
- SIFT 0.09
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available