W28G (p.Trp28Gly) variant of STXBP1 (Syntaxin-binding protein 1)
W28G (p.Trp28Gly) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The record also includes structural context.
W28G (p.Trp28Gly) variant details
- p.Trp28Gly
- rs2539771553
- ClinGen CA375176143
- ClinVar RCV002280066
- Pathogenic
- not provided
- Missense
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available