E48K (p.Glu48Lys) variant of IRS1 (Insulin receptor substrate 1)
E48K (p.Glu48Lys) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
E48K (p.Glu48Lys) variant details
- p.Glu48Lys
- gnomAD rs1427330157
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.52
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)