Q17* (p.Gln17Ter) variant of UNC13D (Protein unc-13 homolog D)
Q17* (p.Gln17Ter) 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.
Q17* (p.Gln17Ter) variant details
- p.Gln17Ter
- rs2064970978
- ClinGen CA401120370
- ClinVar RCV001248651
- TOPMed rs2064970978
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available