S30G (p.Ser30Gly) variant of IRS2 (Insulin receptor substrate 2)
S30G (p.Ser30Gly) in IRS2 (Insulin receptor substrate 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
S30G (p.Ser30Gly) variant details
- p.Ser30Gly
- ExAC rs748054510
- TOPMed rs748054510
- gnomAD rs748054510
- Missense
- Variant Prioritization Score for Impact Estimate 0.0857
- REVEL 0.02
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.68
- Most common in the Middle Eastern population (allele frequency 0.00073)
- Structural context available