L56S (p.Leu56Ser) variant of TOP2A (DNA topoisomerase 2-alpha)
L56S (p.Leu56Ser) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
L56S (p.Leu56Ser) variant details
- p.Leu56Ser
- TOPMed rs1266743916
- gnomAD rs1266743916
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.10
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the Latino/Admixed American population (allele frequency 0.00023)
- Structural context available