S30R (p.Ser30Arg) variant of IRS2 (Insulin receptor substrate 2)
S30R (p.Ser30Arg) in IRS2 (Insulin receptor substrate 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S30R (p.Ser30Arg) variant details
- p.Ser30Arg
- TOPMed rs1486272348
- gnomAD rs1486272348
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.01
- CADD 19.50
- PolyPhen-2 0.14
- SIFT 0.11
- Population evidence available
- Structural context available