E55G (p.Glu55Gly) variant of TOP2A (DNA topoisomerase 2-alpha)
E55G (p.Glu55Gly) 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 0.54 / 1. The record also includes population frequency data and structural context.
E55G (p.Glu55Gly) variant details
- p.Glu55Gly
- rs549097402
- ClinGen CA8543846
- ClinVar RCV004468044
- 1000Genomes rs549097402
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.47
- CADD 27.10
- PolyPhen-2 0.24
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available