A62V (p.Ala62Val) variant of IRS2 (Insulin receptor substrate 2)
A62V (p.Ala62Val) in IRS2 (Insulin receptor substrate 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A62V (p.Ala62Val) variant details
- p.Ala62Val
- TOPMed rs1273204122
- gnomAD rs1273204122
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.03
- CADD 18.70
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available