P69S (p.Pro69Ser) variant of STXBP1 (Syntaxin-binding protein 1)
P69S (p.Pro69Ser) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 4. The record also includes structural context.
P69S (p.Pro69Ser) variant details
- p.Pro69Ser
- NCI-TCGA TCGA novel
- Uncertain significance
- Developmental and epileptic encephalopathy, 4
- Missense
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 4)
- UniProt: Uncertain significance
- Structural context available