R1448L (p.Arg1448Leu) variant of SCN4A (Nav1.4)
R1448L (p.Arg1448Leu) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hyperkalemic periodic paralysis; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
R1448L (p.Arg1448Leu) variant details
- p.Arg1448Leu
- rs121908545
- ClinGen CA400616189
- ClinVar RCV000713109
- ClinVar RCV002532949
- Conflicting interpretations
- Hyperkalemic periodic paralysis; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.947
- AlphaMissense 0.94
- MetaLR 0.97
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Conflicting classifications of pathogenicity (Hyperkalemic periodic paralysis; Inborn genetic diseases; not pr)
- EBI: Pathogenic (in PMC)
- UniProt: Pathogenic (in PMC)
- Structural context available
- Cited in: What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed. (PMID 18166706)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)