S117R (p.Ser117Arg) variant of TOP2A (DNA topoisomerase 2-alpha)
S117R (p.Ser117Arg) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S117R (p.Ser117Arg) variant details
- p.Ser117Arg
- TOPMed rs1414741244
- gnomAD rs1414741244
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.38
- CADD 22.70
- PolyPhen-2 0.61
- SIFT 0.04
- Population evidence available
- Structural context available