E59K (p.Glu59Lys) variant of IRS2 (Insulin receptor substrate 2)
E59K (p.Glu59Lys) in IRS2 (Insulin receptor substrate 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E59K (p.Glu59Lys) variant details
- p.Glu59Lys
- NCI-TCGA TCGA novel
- gnomAD rs1877906847
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.06
- CADD 18.70
- PolyPhen-2 0.16
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 3.3e-05)
- Structural context available