E37D (p.Glu37Asp) variant of IRS1 (Insulin receptor substrate 1)
E37D (p.Glu37Asp) in IRS1 (Insulin receptor substrate 1) 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 0.36 / 1. The record also includes population frequency data.
E37D (p.Glu37Asp) variant details
- p.Glu37Asp
- rs1939811520
- ClinGen CA350857239
- ClinVar RCV004110139
- TOPMed rs1939811520
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.10
- CADD 19.80
- PolyPhen-2 0.02
- SIFT 0.33
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)