T1658M (p.Thr1658Met) variant of SCN1A (Nav1.1)
T1658M (p.Thr1658Met) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Developmental and epileptic encephalopathy 6B; Early-infantile DEE; Severe myocl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
T1658M (p.Thr1658Met) variant details
- p.Thr1658Met
- rs121917922
- ClinGen CA285192
- cosmic curated COSV57684
- ClinVar RCV000059523
- Pathogenic/Likely pathogenic
- Developmental and epileptic encephalopathy 6B; Early-infantile DEE; Severe myocl
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.79
- ClinVar: Pathogenic/Likely pathogenic (Developmental and epileptic encephalopathy 6B; Early-infantile D)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. (PMID 18930999)
- Cited in: Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. (PMID 20522430)