G123E (p.Gly123Glu) variant of IRS1 (Insulin receptor substrate 1)
G123E (p.Gly123Glu) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data.
G123E (p.Gly123Glu) variant details
- p.Gly123Glu
- ESP rs200009513
- ExAC rs200009513
- TOPMed rs200009513
- gnomAD rs200009513
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.05
- CADD 12.00
- PolyPhen-2 0.01
- SIFT 0.32
- Most common in the African/African-American population (allele frequency 0.00031)