K191E (p.Lys191Glu) variant of TOP2A (DNA topoisomerase 2-alpha)
K191E (p.Lys191Glu) 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.
K191E (p.Lys191Glu) variant details
- p.Lys191Glu
- TOPMed rs1318467719
- gnomAD rs1318467719
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.25
- CADD 24.20
- PolyPhen-2 0.23
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available