T78S (p.Thr78Ser) variant of STXBP1 (Syntaxin-binding protein 1)
T78S (p.Thr78Ser) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
T78S (p.Thr78Ser) variant details
- p.Thr78Ser
- ExAC rs752547899
- TOPMed rs752547899
- gnomAD rs752547899
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.30
- CADD 19.40
- PolyPhen-2 0.06
- SIFT 0.53
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available