I77T (p.Ile77Thr) variant of STXBP1 (Syntaxin-binding protein 1)
I77T (p.Ile77Thr) 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.
I77T (p.Ile77Thr) variant details
- p.Ile77Thr
- rs2539792386
- ClinGen CA375176500
- ClinVar RCV006563002
- Uncertain significance
- Early-infantile DEE
- Missense
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available