S2C (p.Ser2Cys) variant of TOP1 (DNA topoisomerase 1)
S2C (p.Ser2Cys) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S2C (p.Ser2Cys) variant details
- p.Ser2Cys
- gnomAD 20-41029071-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.17
- MetaLR 0.10
- MetaSVM -1.03
- CADD 28.90
- PolyPhen-2 0.97
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available