G3E (p.Gly3Glu) variant of TOP1 (DNA topoisomerase 1)
G3E (p.Gly3Glu) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G3E (p.Gly3Glu) variant details
- p.Gly3Glu
- gnomAD 20-41029075-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.24
- MetaLR 0.09
- MetaSVM -1.07
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available