N8S (p.Asn8Ser) variant of TOP1 (DNA topoisomerase 1)
N8S (p.Asn8Ser) in TOP1 (DNA topoisomerase 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
N8S (p.Asn8Ser) variant details
- p.Asn8Ser
- TOPMed rs2033080135
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.09
- MetaLR 0.06
- MetaSVM -1.08
- CADD 23.60
- PolyPhen-2 0.90
- SIFT 0.27
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available