G57A (p.Gly57Ala) variant of IRS2 (Insulin receptor substrate 2)
G57A (p.Gly57Ala) in IRS2 (Insulin receptor substrate 2) 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 and structural context.
G57A (p.Gly57Ala) variant details
- p.Gly57Ala
- TOPMed rs1248043947
- gnomAD rs1248043947
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.06
- CADD 14.40
- PolyPhen-2 0.03
- SIFT 1.00
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available