E37Q (p.Glu37Gln) variant of IRS1 (Insulin receptor substrate 1)
E37Q (p.Glu37Gln) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
E37Q (p.Glu37Gln) variant details
- p.Glu37Gln
- TOPMed rs1024227751
- gnomAD rs1024227751
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.24
- CADD 26.00
- PolyPhen-2 0.86
- SIFT 0.05
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)