D4N (p.Asp4Asn) variant of TOP1 (DNA topoisomerase 1)
D4N (p.Asp4Asn) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
D4N (p.Asp4Asn) variant details
- p.Asp4Asn
- gnomAD 20-41029077-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.12
- MetaLR 0.10
- MetaSVM -1.04
- CADD 26.00
- PolyPhen-2 0.96
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available