T1313M (p.Thr1313Met) variant of SCN4A (Nav1.4)
T1313M (p.Thr1313Met) 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 myopathy, autosomal recessive; SCN4A-related disorder; Hyperkalemi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
T1313M (p.Thr1313Met) variant details
- p.Thr1313Met
- rs121908547
- ClinGen CA117841
- NCI-TCGA Cosmic COSV7112
- ClinVar RCV000006266
- Pathogenic
- SCN4A-related myopathy, autosomal recessive; SCN4A-related disorder; Hyperkalemi
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.96
- CADD 28.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (SCN4A-related myopathy, autosomal recessive; SCN4A-related disor)
- EBI: Pathogenic (in PMC)
- UniProt: Pathogenic (in PMC)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in… (PMID 1310898)
- Cited in: Temperature-sensitive defects in paramyotonia congenita mutants R1448C and T1313M. (PMID 15318338)