G8E (p.Gly8Glu) variant of IRS2 (Insulin receptor substrate 2)
G8E (p.Gly8Glu) 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 not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
G8E (p.Gly8Glu) variant details
- p.Gly8Glu
- rs2138939986
- ClinGen CA388663972
- ClinVar RCV004092533
- Ensembl rs2138939986
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.02
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available