E180K (p.Glu180Lys) variant of TOP2A (DNA topoisomerase 2-alpha)
E180K (p.Glu180Lys) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
E180K (p.Glu180Lys) variant details
- p.Glu180Lys
- ESP rs80184041
- ExAC rs80184041
- TOPMed rs80184041
- gnomAD rs80184041
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.63
- CADD 26.70
- PolyPhen-2 0.89
- SIFT 0.01
- Population evidence available
- Structural context available