K131E (p.Lys131Glu) variant of TOP2A (DNA topoisomerase 2-alpha)
K131E (p.Lys131Glu) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
K131E (p.Lys131Glu) variant details
- p.Lys131Glu
- TOPMed rs930032673
- gnomAD rs930032673
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.22
- CADD 25.60
- PolyPhen-2 0.52
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00022)
- Structural context available