R38S (p.Arg38Ser) variant of IRS2 (Insulin receptor substrate 2)
R38S (p.Arg38Ser) in IRS2 (Insulin receptor substrate 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R38S (p.Arg38Ser) variant details
- p.Arg38Ser
- TOPMed rs1213621000
- gnomAD rs1213621000
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.33
- CADD 22.80
- PolyPhen-2 0.17
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available