R672S (p.Arg672Ser) variant of SCN4A (Nav1.4)
R672S (p.Arg672Ser) 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 not provided; Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
R672S (p.Arg672Ser) variant details
- p.Arg672Ser
- rs80338785
- ClinGen CA253654
- ClinVar RCV000006279
- ClinVar RCV000206986
- Pathogenic/Likely pathogenic
- not provided; Hyperkalemic periodic paralysis
- 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/Likely pathogenic (not provided; Hyperkalemic periodic paralysis)
- EBI: Pathogenic (in HOKPP2)
- UniProt: Pathogenic (in HOKPP2)
- Structural context available
- Cited in: Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis. (PMID 11558801)
- Cited in: Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK. (PMID 11591859)