E45K (p.Glu45Lys) variant of TOP1 (DNA topoisomerase 1)
E45K (p.Glu45Lys) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E45K (p.Glu45Lys) variant details
- p.Glu45Lys
- gnomAD 20-41061468-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.11
- MetaLR 0.10
- MetaSVM -1.10
- CADD 28.20
- PolyPhen-2 0.90
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available