Q40* (p.Gln40Ter) variant of IRS2 (Insulin receptor substrate 2)
Q40* (p.Gln40Ter) in IRS2 (Insulin receptor substrate 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
Q40* (p.Gln40Ter) variant details
- p.Gln40Ter
- Ensembl rs2138939651
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.732
- CADD 36.00
- Population evidence available
- Structural context available