E37K (p.Glu37Lys) variant of IRS1 (Insulin receptor substrate 1)
E37K (p.Glu37Lys) in IRS1 (Insulin receptor substrate 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data.
E37K (p.Glu37Lys) variant details
- p.Glu37Lys
- rs1024227751
- NCI-TCGA Cosmic COSV5933
- TOPMed rs1024227751
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.30
- CADD 24.80
- PolyPhen-2 0.43
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)