T56R (p.Thr56Arg) variant of STXBP1 (Syntaxin-binding protein 1)
T56R (p.Thr56Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes structural context.
T56R (p.Thr56Arg) variant details
- p.Thr56Arg
- rs1554776228
- ClinGen CA318913
- ClinVar RCV006468821
- Ensembl rs1554776228
- Pathogenic
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- AlphaMissense 0.99
- MetaLR 0.76
- MetaSVM 0.73
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (Early-infantile DEE)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available