S57C (p.Ser57Cys) variant of TOP1 (DNA topoisomerase 1)
S57C (p.Ser57Cys) 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 and structural context.
S57C (p.Ser57Cys) variant details
- p.Ser57Cys
- ExAC rs762757738
- gnomAD rs762757738
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.11
- MetaLR 0.10
- MetaSVM -1.08
- CADD 25.30
- PolyPhen-2 0.92
- SIFT 0.04
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available