S2I (p.Ser2Ile) variant of TOP1 (DNA topoisomerase 1)
S2I (p.Ser2Ile) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S2I (p.Ser2Ile) variant details
- p.Ser2Ile
- gnomAD 20-41029072-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.17
- MetaLR 0.10
- MetaSVM -1.01
- CADD 28.60
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available