E53* (p.Glu53Ter) variant of STXBP1 (Syntaxin-binding protein 1)
E53* (p.Glu53Ter) in STXBP1 (Syntaxin-binding protein 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes structural context.
E53* (p.Glu53Ter) variant details
- p.Glu53Ter
- rs749965674
- ClinGen CA375176328
- ClinVar RCV001038009
- ExAC rs749965674
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.552
- AlphaMissense 0.41
- MetaLR 0.58
- MetaSVM 0.19
- PolyPhen-2 0.99
- SIFT 0.07
- EVE 0.34
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available