G54S (p.Gly54Ser) variant of IRS2 (Insulin receptor substrate 2)
G54S (p.Gly54Ser) in IRS2 (Insulin receptor substrate 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G54S (p.Gly54Ser) variant details
- p.Gly54Ser
- gnomAD rs1166002006
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.23
- CADD 21.00
- PolyPhen-2 1.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available