W28* (p.Trp28Ter) variant of STXBP1 (Syntaxin-binding protein 1)
W28* (p.Trp28Ter) in STXBP1 (Syntaxin-binding protein 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
W28* (p.Trp28Ter) variant details
- p.Trp28Ter
- rs1064793984
- ClinGen CA16618736
- ClinVar RCV000481498
- Ensembl rs1064793984
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available