E112K (p.Glu112Lys) variant of TOP2A (DNA topoisomerase 2-alpha)
E112K (p.Glu112Lys) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E112K (p.Glu112Lys) variant details
- p.Glu112Lys
- Ensembl rs2143688150
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.23
- CADD 23.70
- PolyPhen-2 0.04
- SIFT 0.03
- Population evidence available
- Structural context available