I19T (p.Ile19Thr) variant of STXBP1 (Syntaxin-binding protein 1)
I19T (p.Ile19Thr) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
I19T (p.Ile19Thr) variant details
- p.Ile19Thr
- rs2539771391
- ClinGen CA375176080
- ClinVar RCV003142294
- Uncertain significance
- Developmental and epileptic encephalopathy, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- CADD 13.80
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: STXBP1 Encephalopathy with Epilepsy. (PMID 27905812)