G1306V (p.Gly1306Val) variant of SCN4A (Nav1.4)
G1306V (p.Gly1306Val) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hyperkalemic periodic paralysis; Potassium-aggravated myotonia; Congenital myast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
G1306V (p.Gly1306Val) variant details
- p.Gly1306Val
- rs80338792
- ClinGen CA117840
- ClinVar RCV000006264
- ClinVar RCV000006265
- Pathogenic
- Hyperkalemic periodic paralysis; Potassium-aggravated myotonia; Congenital myast
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.92
- AlphaMissense 0.32
- MetaLR 0.91
- MetaSVM 1.07
- CADD 23.80
- PolyPhen-2 0.54
- ClinVar: Pathogenic (Hyperkalemic periodic paralysis; Potassium-aggravated myotonia;)
- EBI: Pathogenic (in MYOSCN4A and PMC)
- UniProt: Pathogenic (in MYOSCN4A and 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: Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians. (PMID 18337100)