S73* (p.Ser73Ter) variant of DLG4 (Disks large homolog 4)
S73* (p.Ser73Ter) in DLG4 (Disks large homolog 4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes experimental measurements, published literature, and structural context.
S73* (p.Ser73Ter) variant details
- p.Ser73Ter
- rs2142886687
- ClinGen CA397720169
- ClinVar RCV001800188
- Ensembl rs2142886687
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.114
- Cited in: DLG4-Related Synaptopathy. (PMID 37347881)