Y47* (p.Tyr47Ter) variant of IRS1 (Insulin receptor substrate 1)
Y47* (p.Tyr47Ter) in IRS1 (Insulin receptor substrate 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
Y47* (p.Tyr47Ter) variant details
- p.Tyr47Ter
- TOPMed rs894297593
- gnomAD rs894297593
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.543
- CADD 35.00
- Most common in the East Asian population (allele frequency 2.5e-05)