E25* (p.Glu25Ter) variant of SETD2 (Q9BYW2)
E25* (p.Glu25Ter) in SETD2 (Q9BYW2) 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, experimental measurements, and structural context.
E25* (p.Glu25Ter) variant details
- p.Glu25Ter
- NCI-TCGA Cosmic COSV1003
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.878
- CADD 45.00
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.907