G544D (p.Gly544Asp) variant of STXBP1 (Syntaxin-binding protein 1)
G544D (p.Gly544Asp) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Early-infantile DEE; Developmental and epileptic encephalopathy, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G544D (p.Gly544Asp) variant details
- p.Gly544Asp
- rs121918317
- ClinGen CA118448
- ClinVar RCV000007118
- ClinVar RCV006555276
- Pathogenic
- Early-infantile DEE; Developmental and epileptic encephalopathy, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.981
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic (Early-infantile DEE; Developmental and epileptic encephalopathy,)
- EBI: Pathogenic (in DEE4)
- UniProt: Pathogenic (in DEE4)
- Structural context available
- Cited in: De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. (PMID 18469812)
- Cited in: STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. (PMID 20887364)