G544V (p.Gly544Val) variant of STXBP1 (Syntaxin-binding protein 1)
G544V (p.Gly544Val) 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; not provided; 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.
G544V (p.Gly544Val) variant details
- p.Gly544Val
- rs121918317
- ClinGen CA374939370
- ClinVar RCV000494083
- ClinVar RCV001290393
- Pathogenic
- Early-infantile DEE; not provided; 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; not provided; Developmental and epileptic e)
- EBI: Pathogenic (in DEE4)
- UniProt: Pathogenic (in DEE4)
- Structural context available
- Cited in: STXBP1 Encephalopathy with Epilepsy. (PMID 27905812)