R292C (p.Arg292Cys) variant of STXBP1 (Syntaxin-binding protein 1)
R292C (p.Arg292Cys) 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 Early-infantile DEE; Spastic ataxia; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
R292C (p.Arg292Cys) variant details
- p.Arg292Cys
- rs786205598
- ClinGen CA302345
- NCI-TCGA Cosmic COSV6481
- cosmic curated COSV64812
- Pathogenic/Likely pathogenic
- Early-infantile DEE; Spastic ataxia; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- AlphaMissense 0.97
- MetaLR 0.78
- MetaSVM 0.81
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; Spastic ataxia; Inborn genetic diseases)
- EBI: Pathogenic (in DEE4)
- UniProt: Pathogenic (in DEE4)
- 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)