R1448G (p.Arg1448Gly) variant of SCN4A (Nav1.4)
R1448G (p.Arg1448Gly) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
R1448G (p.Arg1448Gly) variant details
- p.Arg1448Gly
- rs121908544
- ClinGen CA400616190
- ClinVar RCV002007313
- Ensembl rs121908544
- Pathogenic
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic (Hyperkalemic periodic paralysis)
- EBI: Pathogenic (in PMC)
- UniProt: Pathogenic (in PMC)
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)