S2G (p.Ser2Gly) variant of TOP1 (DNA topoisomerase 1)
S2G (p.Ser2Gly) 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.
S2G (p.Ser2Gly) variant details
- p.Ser2Gly
- gnomAD 20-41029071-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.14
- MetaLR 0.09
- MetaSVM -1.03
- CADD 25.10
- PolyPhen-2 0.83
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available