Y75H (p.Tyr75His) variant of STXBP1 (Syntaxin-binding protein 1)
Y75H (p.Tyr75His) 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 Early-infantile DEE. The record also includes structural context.
Y75H (p.Tyr75His) variant details
- p.Tyr75His
- rs2539792278
- ClinGen CA375176484
- ClinVar RCV006563455
- Pathogenic
- Early-infantile DEE
- Missense
- ClinVar: Pathogenic (Early-infantile DEE)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available