Q51* (p.Gln51Ter) variant of UNC13D (Protein unc-13 homolog D)
Q51* (p.Gln51Ter) 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.
Q51* (p.Gln51Ter) variant details
- p.Gln51Ter
- rs2545988497
- ClinGen CA401117994
- ClinVar RCV003498095
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available