G54V (p.Gly54Val) variant of IRS2 (Insulin receptor substrate 2)
G54V (p.Gly54Val) in IRS2 (Insulin receptor substrate 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G54V (p.Gly54Val) variant details
- p.Gly54Val
- TOPMed rs1424157764
- gnomAD rs1424157764
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.41
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.13
- Most common in the Latino/Admixed American population (allele frequency 0.0038)
- Structural context available