T105I (p.Thr105Ile) variant of SCN1A (P35498)
T105I (p.Thr105Ile) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
T105I (p.Thr105Ile) variant details
- p.Thr105Ile
- rs796053089
- ClinGen CA317748
- ClinVar RCV000189071
- UniProt VAR 073448
- Pathogenic/Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- AlphaMissense 0.21
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.56
- ClinVar: Pathogenic/Likely pathogenic (not provided)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. (PMID 23195492)
- Cited in: De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. (PMID 11359211)