R46S (p.Arg46Ser) variant of IRS2 (Insulin receptor substrate 2)
R46S (p.Arg46Ser) in IRS2 (Insulin receptor substrate 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
R46S (p.Arg46Ser) variant details
- p.Arg46Ser
- gnomAD rs1287607728
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.90
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available