A124G (p.Ala124Gly) variant of IRS1 (Insulin receptor substrate 1)
A124G (p.Ala124Gly) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data.
A124G (p.Ala124Gly) variant details
- p.Ala124Gly
- TOPMed rs1158727052
- gnomAD rs1158727052
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.02
- CADD 18.40
- Most common in the African/African-American population (allele frequency 4.8e-05)