R184G (p.Arg184Gly) variant of TOP2A (DNA topoisomerase 2-alpha)
R184G (p.Arg184Gly) in TOP2A (DNA topoisomerase 2-alpha) 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 0.29 / 1. The record also includes population frequency data and structural context.
R184G (p.Arg184Gly) variant details
- p.Arg184Gly
- ExAC rs562223504
- TOPMed rs562223504
- gnomAD rs562223504
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.13
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available