R17G (p.Arg17Gly) variant of TOP1 (DNA topoisomerase 1)
R17G (p.Arg17Gly) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R17G (p.Arg17Gly) variant details
- p.Arg17Gly
- Ensembl rs2033087373
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.18
- MetaLR 0.12
- MetaSVM -1.02
- CADD 27.20
- PolyPhen-2 0.93
- SIFT 0.01
- Population evidence available
- Structural context available