L18F (p.Leu18Phe) variant of TOP1 (DNA topoisomerase 1)
L18F (p.Leu18Phe) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L18F (p.Leu18Phe) variant details
- p.Leu18Phe
- gnomAD 20-41029451-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.05
- MetaLR 0.02
- MetaSVM -1.02
- CADD 23.80
- PolyPhen-2 0.09
- SIFT 0.81
- Population evidence available
- Structural context available
- Literature evidence available