D4G (p.Asp4Gly) variant of TOP1 (DNA topoisomerase 1)
D4G (p.Asp4Gly) 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.
D4G (p.Asp4Gly) variant details
- p.Asp4Gly
- gnomAD 20-41029078-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.15
- MetaLR 0.09
- MetaSVM -1.06
- CADD 25.20
- PolyPhen-2 0.96
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available