E59Q (p.Glu59Gln) variant of IRS2 (Insulin receptor substrate 2)
E59Q (p.Glu59Gln) 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.
E59Q (p.Glu59Gln) variant details
- p.Glu59Gln
- gnomAD rs1877906847
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.05
- CADD 16.90
- PolyPhen-2 0.25
- SIFT 0.14
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available