A2E (p.Ala2Glu) variant of IRS1 (Insulin receptor substrate 1)
A2E (p.Ala2Glu) 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.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- ExAC rs775030251
- TOPMed rs775030251
- gnomAD rs775030251
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.24
- CADD 27.70
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)