R44L (p.Arg44Leu) variant of TOP1 (DNA topoisomerase 1)
R44L (p.Arg44Leu) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R44L (p.Arg44Leu) variant details
- p.Arg44Leu
- TOPMed rs1316906747
- gnomAD rs1316906747
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.20
- MetaLR 0.11
- MetaSVM -1.06
- CADD 28.20
- PolyPhen-2 0.93
- SIFT 0.01
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available