Q11K (p.Gln11Lys) variant of TOP1 (DNA topoisomerase 1)
Q11K (p.Gln11Lys) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
Q11K (p.Gln11Lys) variant details
- p.Gln11Lys
- gnomAD 20-41029098-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.08
- MetaLR 0.07
- MetaSVM -1.08
- CADD 28.20
- PolyPhen-2 0.68
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available