Y145C (p.Tyr145Cys) variant of STXBP1 (Syntaxin-binding protein 1)
Y145C (p.Tyr145Cys) 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; not provided; Spastic ataxia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
Y145C (p.Tyr145Cys) variant details
- p.Tyr145Cys
- rs2131462357
- ClinGen CA374932881
- ClinVar RCV001647178
- ClinVar RCV002286839
- Pathogenic/Likely pathogenic
- Early-infantile DEE; not provided; Spastic ataxia
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- AlphaMissense 0.62
- MetaLR 0.57
- MetaSVM 0.22
- PolyPhen-2 0.93
- SIFT 0.00
- EVE 0.82
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; not provided; Spastic ataxia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available