L31P (p.Leu31Pro) variant of STXBP1 (Syntaxin-binding protein 1)
L31P (p.Leu31Pro) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Developmental and epileptic encephalopathy, 4. The record also includes published literature and structural context.
L31P (p.Leu31Pro) variant details
- p.Leu31Pro
- rs2539777941
- ClinVar RCV004595101
- Likely pathogenic
- Developmental and epileptic encephalopathy, 4
- Missense
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: STXBP1 Encephalopathy with Epilepsy. (PMID 27905812)