L250R (p.Leu250Arg) variant of SCN4A (Nav1.4)
L250R (p.Leu250Arg) 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 0.94 / 1. The record also includes published literature and structural context.
L250R (p.Leu250Arg) variant details
- p.Leu250Arg
- rs1057521065
- ClinGen CA400637779
- ClinVar RCV001214233
- gnomAD rs1057521065
- Likely pathogenic
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.945
- MutPred 0.94
- ClinVar: Likely pathogenic (Hyperkalemic periodic paralysis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)