M1K (p.Met1Lys) variant of STXBP1 (Syntaxin-binding protein 1)
M1K (p.Met1Lys) 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 not provided; Early-infantile DEE. The record also includes published literature and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs2539639191
- ClinGen CA375173528
- ClinVar RCV003138849
- Uncertain significance
- not provided; Early-infantile DEE
- Missense
- ClinVar: Uncertain significance (not provided; Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: STXBP1 Encephalopathy with Epilepsy. (PMID 27905812)