M1R (p.Met1Arg) variant of STXBP1 (Syntaxin-binding protein 1)
M1R (p.Met1Arg) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Early-infantile DEE; Developmental and epileptic encephalopathy, 4. The record also includes published literature and structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs2539639191
- ClinGen CA375173530
- ClinVar RCV004794596
- ClinVar RCV006559933
- Pathogenic/Likely pathogenic
- Early-infantile DEE; Developmental and epileptic encephalopathy, 4
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; Developmental and epileptic encephalopathy,)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: STXBP1 Encephalopathy with Epilepsy. (PMID 27905812)