T112I (p.Thr112Ile) variant of SCN1A (P35498)
T112I (p.Thr112Ile) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Early-infantile DEE; not provided; Severe myoclonic epilepsy in infancy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
T112I (p.Thr112Ile) variant details
- p.Thr112Ile
- rs121918745
- ClinGen CA285126
- ClinVar RCV000059492
- ClinVar RCV000433130
- Likely pathogenic
- Early-infantile DEE; not provided; Severe myoclonic epilepsy in infancy
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- AlphaMissense 0.76
- MetaLR 0.92
- MetaSVM 1.18
- PolyPhen-2 0.59
- SIFT 0.00
- EVE 0.20
- ClinVar: Likely pathogenic (Early-infantile DEE; not provided; Severe myoclonic epilepsy in)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized… (PMID 12566275)
- Cited in: De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. (PMID 11359211)