E144* (p.Glu144Ter) variant of UBE3A (Ubiquitin-protein ligase E3A)
E144* (p.Glu144Ter) in UBE3A (Ubiquitin-protein ligase E3A) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact.
E144* (p.Glu144Ter) variant details
- p.Glu144Ter
- NCI-TCGA Cosmic COSV5166
- cosmic curated COSV51663
- Variant assessed as somatic; high impact.
- Stop Gained
- UniProt: Variant assessed as somatic; high impact.