H16Y (p.His16Tyr) variant of STXBP1 (Syntaxin-binding protein 1)
H16Y (p.His16Tyr) 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.
H16Y (p.His16Tyr) variant details
- p.His16Tyr
- rs2539771331
- ClinGen CA375176057
- ClinVar RCV006564036
- Uncertain significance
- Early-infantile DEE
- Missense
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available