E416* (p.Glu416Ter) variant of UBE3A (Ubiquitin-protein ligase E3A)
E416* (p.Glu416Ter) in UBE3A (Ubiquitin-protein ligase E3A) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic.
E416* (p.Glu416Ter) variant details
- p.Glu416Ter
- rs886043612
- ClinGen CA10605727
- NCI-TCGA Cosmic COSV5166
- cosmic curated COSV51664
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic