K27E (p.Lys27Glu) variant of TOP1 (DNA topoisomerase 1)
K27E (p.Lys27Glu) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
K27E (p.Lys27Glu) variant details
- p.Lys27Glu
- TOPMed rs2033542927
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.14
- MetaLR 0.09
- MetaSVM -1.10
- CADD 24.80
- PolyPhen-2 0.90
- SIFT 0.13
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available