D4E (p.Asp4Glu) variant of TOP1 (DNA topoisomerase 1)
D4E (p.Asp4Glu) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
D4E (p.Asp4Glu) variant details
- p.Asp4Glu
- ExAC rs769782931
- gnomAD rs769782931
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.18
- MetaLR 0.06
- MetaSVM -1.05
- CADD 23.30
- PolyPhen-2 0.94
- SIFT 0.11
- Population evidence available
- Structural context available