I55T (p.Ile55Thr) variant of STXBP1 (Syntaxin-binding protein 1)
I55T (p.Ile55Thr) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes structural context.
I55T (p.Ile55Thr) variant details
- p.Ile55Thr
- rs2132444862
- ClinGen CA375176344
- ClinVar RCV001586328
- Ensembl rs2132444862
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- AlphaMissense 0.99
- MetaLR 0.75
- MetaSVM 0.71
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available