G35C (p.Gly35Cys) variant of IRS2 (Insulin receptor substrate 2)
G35C (p.Gly35Cys) in IRS2 (Insulin receptor substrate 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of IRS2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
G35C (p.Gly35Cys) variant details
- p.Gly35Cys
- rs2501619444
- ClinGen CA388663787
- ClinVar RCV003911468
- Uncertain significance
- IRS2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.95
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (IRS2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available