N19I (p.Asn19Ile) variant of TOP1 (DNA topoisomerase 1)
N19I (p.Asn19Ile) 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 and structural context.
N19I (p.Asn19Ile) variant details
- p.Asn19Ile
- ExAC rs764649035
- TOPMed rs764649035
- gnomAD rs764649035
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.12
- MetaLR 0.10
- MetaSVM -1.11
- CADD 33.00
- PolyPhen-2 0.98
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available