R34W (p.Arg34Trp) variant of TOP1 (DNA topoisomerase 1)
R34W (p.Arg34Trp) in TOP1 (DNA topoisomerase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R34W (p.Arg34Trp) variant details
- p.Arg34Trp
- TOPMed rs1319354641
- gnomAD rs1319354641
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.15
- MetaLR 0.07
- MetaSVM -1.08
- CADD 27.20
- PolyPhen-2 0.73
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available