E33* (p.Glu33Ter) variant of INSR (Insulin receptor)
E33* (p.Glu33Ter) in INSR (Insulin receptor) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
E33* (p.Glu33Ter) variant details
- p.Glu33Ter
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.707
- CADD 39.00
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available