L1436P (p.Leu1436Pro) variant of SCN4A (Nav1.4)
L1436P (p.Leu1436Pro) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of SCN4A-related disorder; Hyperkalemic periodic paralysis; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
L1436P (p.Leu1436Pro) variant details
- p.Leu1436Pro
- rs1598405334
- ClinGen CA400616264
- ClinVar RCV000819512
- ClinVar RCV000992899
- Pathogenic
- SCN4A-related disorder; Hyperkalemic periodic paralysis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.94
- CADD 28.50
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Pathogenic (SCN4A-related disorder; Hyperkalemic periodic paralysis; not pro)
- EBI: Pathogenic (in PMC)
- UniProt: Pathogenic (in PMC)
- Most common in the Non-Finnish European population (allele frequency 1e-05)
- 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)