R669C (p.Arg669Cys) variant of SCN4A (Nav1.4)
R669C (p.Arg669Cys) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R669C (p.Arg669Cys) variant details
- p.Arg669Cys
- rs897448432
- ClinGen CA292966944
- NCI-TCGA Cosmic COSV7112
- ClinVar RCV001046074
- Likely pathogenic
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.93
- CADD 32.00
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Likely pathogenic (Hyperkalemic periodic paralysis)
- EBI: Likely pathogenic (in HOKPP2)
- UniProt: Likely pathogenic (in HOKPP2)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)