G52* (p.Gly52Ter) variant of IRS2 (Insulin receptor substrate 2)
G52* (p.Gly52Ter) in IRS2 (Insulin receptor substrate 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
G52* (p.Gly52Ter) variant details
- p.Gly52Ter
- TOPMed rs1222652819
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.641
- CADD 36.00
- Population evidence available
- Structural context available