R551C (p.Arg551Cys) variant of STXBP1 (Syntaxin-binding protein 1)
R551C (p.Arg551Cys) 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 disorder; Epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
R551C (p.Arg551Cys) variant details
- p.Arg551Cys
- rs796053373
- ClinGen CA318892
- NCI-TCGA Cosmic COSV6481
- cosmic curated COSV64813
- Pathogenic
- Early-infantile DEE; Developmental disorder; Epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- AlphaMissense 0.97
- MetaLR 0.79
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Pathogenic (Early-infantile DEE; Developmental disorder; Epilepsy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: STXBP1 Encephalopathy with Epilepsy. (PMID 27905812)