K101E (p.Lys101Glu) variant of TOP2A (DNA topoisomerase 2-alpha)
K101E (p.Lys101Glu) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
K101E (p.Lys101Glu) variant details
- p.Lys101Glu
- TOPMed rs1009430190
- gnomAD rs1009430190
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.10
- CADD 24.50
- PolyPhen-2 0.04
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available