G54D (p.Gly54Asp) variant of IRS2 (Insulin receptor substrate 2)
G54D (p.Gly54Asp) in IRS2 (Insulin receptor substrate 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G54D (p.Gly54Asp) variant details
- p.Gly54Asp
- TOPMed rs1424157764
- gnomAD rs1424157764
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.39
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.07
- Population evidence available
- Structural context available