D17E (p.Asp17Glu) variant of STXBP1 (Syntaxin-binding protein 1)
D17E (p.Asp17Glu) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The record also includes structural context.
D17E (p.Asp17Glu) variant details
- p.Asp17Glu
- rs2539771360
- ClinGen CA375176069
- ClinVar RCV006560648
- Uncertain significance
- Early-infantile DEE
- Missense
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available