R1448P (p.Arg1448Pro) variant of SCN4A (Nav1.4)
R1448P (p.Arg1448Pro) 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; 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.
R1448P (p.Arg1448Pro) variant details
- p.Arg1448Pro
- rs121908545
- ClinGen CA350900
- ClinVar RCV000206910
- ClinVar RCV000518944
- Pathogenic
- Hyperkalemic periodic paralysis; 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: Pathogenic (Hyperkalemic periodic paralysis; not provided)
- EBI: Pathogenic (in PMC)
- UniProt: Pathogenic (in PMC)
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)