E59K (p.Glu59Lys) variant of STXBP1 (Syntaxin-binding protein 1)
E59K (p.Glu59Lys) 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 0.84 / 1. The record also includes structural context.
E59K (p.Glu59Lys) variant details
- p.Glu59Lys
- rs2132460743
- ClinGen CA375176376
- ClinVar RCV003227051
- ClinVar RCV006468615
- Pathogenic
- Early-infantile DEE; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- AlphaMissense 1.00
- MetaLR 0.75
- MetaSVM 0.75
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (Early-infantile DEE; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available