I57T (p.Ile57Thr) variant of STXBP1 (Syntaxin-binding protein 1)
I57T (p.Ile57Thr) 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 0.66 / 1. The record also includes published literature and structural context.
I57T (p.Ile57Thr) variant details
- p.Ile57Thr
- rs2132460702
- ClinGen CA375176367
- ClinVar RCV001808017
- Ensembl rs2132460702
- Uncertain significance
- Developmental and epileptic encephalopathy, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- AlphaMissense 0.98
- MetaLR 0.62
- MetaSVM 0.32
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.74
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: STXBP1 Encephalopathy with Epilepsy. (PMID 27905812)