G43D (p.Gly43Asp) variant of IRS2 (Insulin receptor substrate 2)
G43D (p.Gly43Asp) in IRS2 (Insulin receptor substrate 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
G43D (p.Gly43Asp) variant details
- p.Gly43Asp
- rs1284382975
- TOPMed rs1284382975
- gnomAD rs1284382975
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.50
- CADD 23.80
- PolyPhen-2 0.66
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available