R44W (p.Arg44Trp) variant of TOP1 (DNA topoisomerase 1)
R44W (p.Arg44Trp) in TOP1 (DNA topoisomerase 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R44W (p.Arg44Trp) variant details
- p.Arg44Trp
- rs751834546
- NCI-TCGA Cosmic COSV6369
- ExAC rs751834546
- TOPMed rs751834546
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.17
- MetaLR 0.11
- MetaSVM -1.00
- CADD 31.00
- PolyPhen-2 0.97
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available