M1476I (p.Met1476Ile) variant of SCN4A (Nav1.4)
M1476I (p.Met1476Ile) 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 Acetazolamide-responsive myotonia; not provided; Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
M1476I (p.Met1476Ile) variant details
- p.Met1476Ile
- rs121908559
- ClinGen CA117853
- ClinVar RCV000006284
- ClinVar RCV001046179
- Pathogenic/Likely pathogenic
- Acetazolamide-responsive myotonia; not provided; Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.85
- CADD 23.90
- PolyPhen-2 0.27
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Acetazolamide-responsive myotonia; not provided; Hyperkalemic pe)
- EBI: Pathogenic (in MYOSCN4A)
- UniProt: Pathogenic (in MYOSCN4A)
- Population evidence available
- Structural context available
- Cited in: A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians. (PMID 17998485)
- Cited in: Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians. (PMID 18337100)