H7L (p.His7Leu) variant of TOP1 (DNA topoisomerase 1)
H7L (p.His7Leu) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
H7L (p.His7Leu) variant details
- p.His7Leu
- gnomAD 20-41029087-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.15
- MetaLR 0.08
- MetaSVM -1.09
- CADD 26.00
- PolyPhen-2 0.84
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available