L6H (p.Leu6His) variant of TOP1 (DNA topoisomerase 1)
L6H (p.Leu6His) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L6H (p.Leu6His) variant details
- p.Leu6His
- gnomAD 20-41029084-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.10
- MetaLR 0.04
- MetaSVM -1.09
- CADD 25.00
- PolyPhen-2 0.61
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available