R669H (p.Arg669His) variant of SCN4A (Nav1.4)
R669H (p.Arg669His) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R669H (p.Arg669His) variant details
- p.Arg669His
- rs80338784
- ClinGen CA253651
- ClinVar RCV000006274
- ClinVar RCV000206926
- Pathogenic
- Potassium-aggravated myotonia; Hypokalemic periodic paralysis, type 2; Congenita
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.97
- CADD 28.20
- PolyPhen-2 0.80
- SIFT 0.01
- ClinVar: Pathogenic (Potassium-aggravated myotonia; Hypokalemic periodic paralysis, t)
- EBI: Pathogenic (in HOKPP2)
- UniProt: Pathogenic (in HOKPP2)
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- Cited in: A novel sodium channel mutation in a family with hypokalemic periodic paralysis. (PMID 10599760)
- Cited in: Enhanced inactivation and pH sensitivity of Na(+) channel mutations causing hypokalaemic periodic paralysis type II. (PMID 11912116)