T1658P (p.Thr1658Pro) variant of SCN1A (Nav1.1)
T1658P (p.Thr1658Pro) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Severe myoclonic epilepsy in infancy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
T1658P (p.Thr1658Pro) variant details
- p.Thr1658Pro
- rs1064794766
- ClinGen CA16617285
- ClinVar RCV000482880
- ClinVar RCV003221302
- Likely pathogenic
- not provided; Severe myoclonic epilepsy in infancy
- Missense
- Variant Prioritization Score for Impact Estimate 0.926
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Likely pathogenic (not provided; Severe myoclonic epilepsy in infancy)
- EBI: Likely pathogenic (in DRVT)
- UniProt: Likely pathogenic (in DRVT)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)