N8D (p.Asn8Asp) variant of TOP1 (DNA topoisomerase 1)
N8D (p.Asn8Asp) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
N8D (p.Asn8Asp) variant details
- p.Asn8Asp
- TOPMed rs2033080090
- gnomAD rs2033080090
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.06
- MetaLR 0.07
- MetaSVM -1.10
- CADD 24.40
- PolyPhen-2 0.90
- SIFT 0.21
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available