N19D (p.Asn19Asp) variant of TOP1 (DNA topoisomerase 1)
N19D (p.Asn19Asp) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
N19D (p.Asn19Asp) variant details
- p.Asn19Asp
- gnomAD 20-41029452-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.09
- MetaLR 0.09
- MetaSVM -1.09
- CADD 24.40
- PolyPhen-2 0.90
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available