K48E (p.Lys48Glu) variant of TOP1 (DNA topoisomerase 1)
K48E (p.Lys48Glu) 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.
K48E (p.Lys48Glu) variant details
- p.Lys48Glu
- gnomAD 20-41061477-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.22
- MetaLR 0.10
- MetaSVM -1.06
- CADD 27.70
- PolyPhen-2 0.90
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available