D20N (p.Asp20Asn) variant of TOP1 (DNA topoisomerase 1)
D20N (p.Asp20Asn) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
D20N (p.Asp20Asn) variant details
- p.Asp20Asn
- gnomAD 20-41029455-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.13
- MetaLR 0.08
- MetaSVM -1.10
- CADD 35.00
- PolyPhen-2 0.81
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available