Q518* (p.Gln518Ter) variant of UBE3A (Ubiquitin-protein ligase E3A)
Q518* (p.Gln518Ter) in UBE3A (Ubiquitin-protein ligase E3A) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact.
Q518* (p.Gln518Ter) variant details
- p.Gln518Ter
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Stop Gained
- UniProt: Variant assessed as somatic; high impact.