R675Q (p.Arg675Gln) variant of SCN4A (Nav1.4)
R675Q (p.Arg675Gln) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Potassium-aggravated myotonia; Hypokalemic periodic paralysis, type 2; Congenita. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R675Q (p.Arg675Gln) variant details
- p.Arg675Gln
- rs121908557
- ClinGen CA117851
- NCI-TCGA Cosmic COSV1014
- NCI-TCGA Cosmic COSV9907
- Pathogenic
- Potassium-aggravated myotonia; Hypokalemic periodic paralysis, type 2; Congenita
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- REVEL 0.96
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Pathogenic (Potassium-aggravated myotonia; Hypokalemic periodic paralysis, t)
- EBI: Pathogenic (in NKPP)
- UniProt: Pathogenic (in NKPP)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. (PMID 15596759)
- Cited in: Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis. (PMID 18046642)