R672C (p.Arg672Cys) variant of SCN4A (Nav1.4)
R672C (p.Arg672Cys) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic para. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
R672C (p.Arg672Cys) variant details
- p.Arg672Cys
- rs80338785
- ClinGen CA341668
- NCI-TCGA Cosmic COSV7112
- ClinVar RCV000206949
- Pathogenic
- not provided; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic para
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.05
- PolyPhen-2 0.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic (not provided; Hypokalemic periodic paralysis, type 2; Hyperkalem)
- EBI: Pathogenic (in HOKPP2)
- UniProt: Pathogenic (in HOKPP2)
- Structural context available
- Cited in: The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis. (PMID 18162704)
- Cited in: Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. (PMID 19118277)