Q11L (p.Gln11Leu) variant of TOP1 (DNA topoisomerase 1)
Q11L (p.Gln11Leu) 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.
Q11L (p.Gln11Leu) variant details
- p.Gln11Leu
- gnomAD 20-41029099-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.12
- MetaLR 0.08
- MetaSVM -1.09
- CADD 32.00
- PolyPhen-2 0.78
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available