S2R (p.Ser2Arg) variant of TOP1 (DNA topoisomerase 1)
S2R (p.Ser2Arg) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S2R (p.Ser2Arg) variant details
- p.Ser2Arg
- gnomAD 20-41029073-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.22
- MetaLR 0.08
- MetaSVM -1.06
- CADD 23.70
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available