R551L (p.Arg551Leu) variant of STXBP1 (Syntaxin-binding protein 1)
R551L (p.Arg551Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
R551L (p.Arg551Leu) variant details
- p.Arg551Leu
- rs796053374
- ClinGen CA16042750
- ClinVar RCV000414301
- ClinVar RCV006555894
- Pathogenic
- Early-infantile DEE; not provided
- 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 (Early-infantile DEE; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available