R551H (p.Arg551His) variant of STXBP1 (Syntaxin-binding protein 1)
R551H (p.Arg551His) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Early-infantile DEE; Developmental and epileptic enceph. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
R551H (p.Arg551His) variant details
- p.Arg551His
- rs796053374
- cosmic curated COSV64815
- ClinGen CA374939465
- NCI-TCGA Cosmic COSV6481
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Early-infantile DEE; Developmental and epileptic enceph
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- AlphaMissense 1.00
- MetaLR 0.79
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Early-infantile DEE; Developmental and)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: STXBP1 Encephalopathy with Epilepsy. (PMID 27905812)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)