G52A (p.Gly52Ala) variant of IRS2 (Insulin receptor substrate 2)
G52A (p.Gly52Ala) in IRS2 (Insulin receptor substrate 2) is a missense change. 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.
G52A (p.Gly52Ala) variant details
- p.Gly52Ala
- TOPMed rs1594393161
- gnomAD rs1594393161
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.14
- CADD 18.10
- PolyPhen-2 0.32
- SIFT 0.86
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available