R675W (p.Arg675Trp) variant of SCN4A (Nav1.4)
R675W (p.Arg675Trp) 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; Paramyotonia congenita of Von Eulenburg; Hyperkalemic periodic par. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R675W (p.Arg675Trp) variant details
- p.Arg675Trp
- rs121908556
- ClinGen CA117839
- NCI-TCGA Cosmic COSV7112
- ClinVar RCV000006263
- Pathogenic/Likely pathogenic
- not provided; Paramyotonia congenita of Von Eulenburg; Hyperkalemic periodic par
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.94
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.02
- CADD 26.80
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Paramyotonia congenita of Von Eulenburg; Hyperkale)
- EBI: Pathogenic (in NKPP)
- UniProt: Pathogenic (in NKPP)
- Most common in the REMAINING population (allele frequency 0.00096)
- Structural context available
- Cited in: New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. (PMID 15596759)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)