R38C (p.Arg38Cys) variant of IRS2 (Insulin receptor substrate 2)
R38C (p.Arg38Cys) in IRS2 (Insulin receptor substrate 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R38C (p.Arg38Cys) variant details
- p.Arg38Cys
- TOPMed rs1213621000
- gnomAD rs1213621000
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.40
- CADD 25.30
- PolyPhen-2 0.68
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 3.3e-05)
- Structural context available