A126G (p.Ala126Gly) variant of IRS1 (Insulin receptor substrate 1)
A126G (p.Ala126Gly) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data.
A126G (p.Ala126Gly) variant details
- p.Ala126Gly
- TOPMed rs1451271200
- gnomAD rs1451271200
- Missense
- Variant Prioritization Score for Impact Estimate 0.0772
- REVEL 0.06
- CADD 6.17
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the African/African-American population (allele frequency 0.00041)