G54R (p.Gly54Arg) variant of IRS2 (Insulin receptor substrate 2)
G54R (p.Gly54Arg) in IRS2 (Insulin receptor substrate 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G54R (p.Gly54Arg) variant details
- p.Gly54Arg
- gnomAD rs1166002006
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.40
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available