E180Q (p.Glu180Gln) variant of TOP2A (DNA topoisomerase 2-alpha)
E180Q (p.Glu180Gln) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. Clinical records from ClinVar 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 0.55 / 1. The record also includes population frequency data and structural context.
E180Q (p.Glu180Gln) variant details
- p.Glu180Gln
- ESP rs80184041
- ExAC rs80184041
- TOPMed rs80184041
- gnomAD rs80184041
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.38
- CADD 25.70
- PolyPhen-2 0.92
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available