N51S (p.Asn51Ser) variant of TOP1 (DNA topoisomerase 1)
N51S (p.Asn51Ser) 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.
N51S (p.Asn51Ser) variant details
- p.Asn51Ser
- gnomAD 20-41061487-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.10
- MetaLR 0.08
- MetaSVM -1.12
- CADD 23.60
- PolyPhen-2 0.90
- SIFT 0.07
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available