I118L (p.Ile118Leu) variant of TOP2A (DNA topoisomerase 2-alpha)
I118L (p.Ile118Leu) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
I118L (p.Ile118Leu) variant details
- p.Ile118Leu
- TOPMed rs2035351790
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.19
- CADD 22.90
- PolyPhen-2 0.18
- SIFT 0.00
- Population evidence available
- Structural context available