G40D (p.Gly40Asp) variant of IRS1 (Insulin receptor substrate 1)
G40D (p.Gly40Asp) in IRS1 (Insulin receptor substrate 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
G40D (p.Gly40Asp) variant details
- p.Gly40Asp
- ExAC rs769578293
- TOPMed rs769578293
- gnomAD rs769578293
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.32
- CADD 24.10
- PolyPhen-2 0.88
- SIFT 0.26
- Most common in the African/African-American population (allele frequency 2.4e-05)