N19S (p.Asn19Ser) variant of TOP1 (DNA topoisomerase 1)
N19S (p.Asn19Ser) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
N19S (p.Asn19Ser) variant details
- p.Asn19Ser
- gnomAD 20-41029453-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.15
- MetaLR 0.06
- MetaSVM -0.94
- CADD 23.80
- PolyPhen-2 0.90
- SIFT 0.49
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available