G54C (p.Gly54Cys) variant of IRS2 (Insulin receptor substrate 2)
G54C (p.Gly54Cys) in IRS2 (Insulin receptor substrate 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G54C (p.Gly54Cys) variant details
- p.Gly54Cys
- gnomAD rs1166002006
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.47
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.11
- Population evidence available
- Structural context available