G1306E (p.Gly1306Glu) variant of SCN4A (Nav1.4)
G1306E (p.Gly1306Glu) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of SCN4A-related channelopathy; SCN4A-related disorder; Paramyotonia congenita of V. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
G1306E (p.Gly1306Glu) variant details
- p.Gly1306Glu
- rs80338792
- ClinGen CA117852
- NCI-TCGA Cosmic COSV1014
- ClinVar RCV000489251
- Pathogenic
- SCN4A-related channelopathy; SCN4A-related disorder; Paramyotonia congenita of V
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- AlphaMissense 0.32
- MetaLR 0.91
- MetaSVM 1.07
- PolyPhen-2 0.54
- SIFT 0.00
- EVE 0.43
- ClinVar: Pathogenic (SCN4A-related channelopathy; SCN4A-related disorder; Paramyotoni)
- EBI: Pathogenic (in MYOSCN4A and PMC)
- UniProt: Pathogenic (in MYOSCN4A and PMC)
- Structural context available
- Cited in: Autosomal dominant monosymptomatic myotonia permanens. (PMID 16832098)
- Cited in: What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed. (PMID 18166706)