T704M (p.Thr704Met) variant of SCN4A (Nav1.4)
T704M (p.Thr704Met) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of SCN4A-related disorder; Sotos syndrome; Paramyotonia congenita of Von Eulenburg. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
T704M (p.Thr704Met) variant details
- p.Thr704Met
- rs80338957
- ClinGen CA117833
- ClinVar RCV000006254
- ClinVar RCV000006255
- Pathogenic/Likely pathogenic
- SCN4A-related disorder; Sotos syndrome; Paramyotonia congenita of Von Eulenburg
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.93
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (SCN4A-related disorder; Sotos syndrome; Paramyotonia congenita o)
- EBI: Pathogenic (in HYPP and PMC)
- UniProt: Pathogenic (in HYPP and PMC)
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica… (PMID 11309455)
- Cited in: Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum… (PMID 12933953)