A42G (p.Ala42Gly) variant of IRS1 (Insulin receptor substrate 1)
A42G (p.Ala42Gly) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
A42G (p.Ala42Gly) variant details
- p.Ala42Gly
- ExAC rs772277263
- gnomAD rs772277263
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.45
- CADD 23.60
- PolyPhen-2 0.41
- SIFT 0.07
- Most common in the East Asian population (allele frequency 2.5e-05)