R1132Q (p.Arg1132Gln) variant of SCN4A (Nav1.4)
R1132Q (p.Arg1132Gln) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Skeletal muscle channelopathy; not specified; not provided. 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.
R1132Q (p.Arg1132Gln) variant details
- p.Arg1132Gln
- rs80338789
- ClinGen CA263213
- ClinVar RCV000043510
- ClinVar RCV000517960
- Pathogenic
- Skeletal muscle channelopathy; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.93
- MetaLR 0.99
- MetaSVM 0.94
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Skeletal muscle channelopathy; not specified; not provided)
- EBI: Pathogenic (in HOKPP2)
- UniProt: Pathogenic (in HOKPP2)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis. (PMID 16890191)
- Cited in: Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. (PMID 19118277)