E16* (p.Glu16Ter) variant of CASK (O14936)
E16* (p.Glu16Ter) in CASK (O14936) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes experimental measurements and structural context.
E16* (p.Glu16Ter) variant details
- p.Glu16Ter
- NCI-TCGA Cosmic COSV1005
- Variant assessed as somatic; high impact.
- Stop Gained
- UniProt: Variant assessed as somatic; high impact.
- Structural context available
- CASK PDZ domain domainome 1.0: score -0.593