E97* (p.Glu97Ter) variant of ITPR2 (Q14571)
E97* (p.Glu97Ter) in ITPR2 (Q14571) 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 0.88 / 1. The record also includes population frequency data and structural context.
E97* (p.Glu97Ter) variant details
- p.Glu97Ter
- NCI-TCGA Cosmic COSV5438
- cosmic curated COSV54384
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.877
- CADD 40.00
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available