E50* (p.Glu50Ter) variant of UNC13D (Protein unc-13 homolog D)
E50* (p.Glu50Ter) in UNC13D (Protein unc-13 homolog D) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E50* (p.Glu50Ter) variant details
- p.Glu50Ter
- rs756652448
- ClinGen CA401118030
- ClinVar RCV003604237
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available