R46C (p.Arg46Cys) variant of IRS2 (Insulin receptor substrate 2)
R46C (p.Arg46Cys) in IRS2 (Insulin receptor substrate 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
R46C (p.Arg46Cys) variant details
- p.Arg46Cys
- gnomAD rs1287607728
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.90
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available