M15K (p.Met15Lys) variant of STXBP1 (Syntaxin-binding protein 1)
M15K (p.Met15Lys) 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 structural context.
M15K (p.Met15Lys) variant details
- p.Met15Lys
- TOPMed rs1004281468
- 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