S57Y (p.Ser57Tyr) variant of TOP1 (DNA topoisomerase 1)
S57Y (p.Ser57Tyr) 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.
S57Y (p.Ser57Tyr) variant details
- p.Ser57Tyr
- gnomAD 20-41076185-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.10
- MetaLR 0.09
- MetaSVM -1.14
- CADD 23.60
- PolyPhen-2 0.89
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available