L6I (p.Leu6Ile) variant of TOP1 (DNA topoisomerase 1)
L6I (p.Leu6Ile) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L6I (p.Leu6Ile) variant details
- p.Leu6Ile
- gnomAD 20-41029083-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.05
- MetaLR 0.03
- MetaSVM -1.03
- CADD 22.40
- PolyPhen-2 0.13
- SIFT 0.69
- Population evidence available
- Structural context available
- Literature evidence available