V445M (p.Val445Met) variant of SCN4A (Nav1.4)
V445M (p.Val445Met) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
V445M (p.Val445Met) variant details
- p.Val445Met
- rs121908552
- ClinGen CA117847
- ClinVar RCV000006273
- ClinVar RCV000255075
- Pathogenic
- Hyperkalemic periodic paralysis; Potassium-aggravated myotonia; Congenital myast
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.92
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hyperkalemic periodic paralysis; Potassium-aggravated myotonia;)
- EBI: Pathogenic (in MYOSCN4A)
- UniProt: Pathogenic (in MYOSCN4A)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia. (PMID 10218481)
- Cited in: Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians. (PMID 18337100)