K48M (p.Lys48Met) variant of TOP1 (DNA topoisomerase 1)
K48M (p.Lys48Met) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
K48M (p.Lys48Met) variant details
- p.Lys48Met
- gnomAD 20-41061478-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.24
- MetaLR 0.11
- MetaSVM -1.02
- CADD 28.70
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available