L45F (p.Leu45Phe) variant of TOP2A (DNA topoisomerase 2-alpha)
L45F (p.Leu45Phe) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
L45F (p.Leu45Phe) variant details
- p.Leu45Phe
- TOPMed rs1296708366
- gnomAD rs1296708366
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.42
- CADD 29.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available