V33E (p.Val33Glu) variant of STXBP1 (Syntaxin-binding protein 1)
V33E (p.Val33Glu) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes structural context.
V33E (p.Val33Glu) variant details
- p.Val33Glu
- rs1840653547
- ClinGen CA375176186
- ClinVar RCV006464809
- Ensembl rs1840653547
- Likely pathogenic
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- AlphaMissense 0.99
- MetaLR 0.66
- MetaSVM 0.52
- PolyPhen-2 0.91
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (Early-infantile DEE)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available