E67K (p.Glu67Lys) variant of IRS1 (Insulin receptor substrate 1)
E67K (p.Glu67Lys) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data.
E67K (p.Glu67Lys) variant details
- p.Glu67Lys
- ExAC rs758065603
- TOPMed rs758065603
- gnomAD rs758065603
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.46
- CADD 27.70
- PolyPhen-2 0.93
- SIFT 0.01
- Most common in the 1KG:MSL population (allele frequency 0.013)