V1458F (p.Val1458Phe) variant of SCN4A (Nav1.4)
V1458F (p.Val1458Phe) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
V1458F (p.Val1458Phe) variant details
- p.Val1458Phe
- rs1199222144
- ClinGen CA400616143
- ClinVar RCV000713110
- ClinVar RCV000804436
- Pathogenic/Likely pathogenic
- not provided; Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.90
- CADD 23.00
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hyperkalemic periodic paralysis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)