S804F (p.Ser804Phe) variant of SCN4A (Nav1.4)
S804F (p.Ser804Phe) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
S804F (p.Ser804Phe) variant details
- p.Ser804Phe
- rs121908546
- ClinGen CA117838
- ClinVar RCV000006261
- ClinVar RCV000489309
- Pathogenic/Likely pathogenic
- not provided; Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.94
- CADD 24.90
- PolyPhen-2 0.13
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hyperkalemic periodic paralysis)
- EBI: Pathogenic (in PMC)
- UniProt: Pathogenic (in PMC)
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Cited in: Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel. (PMID 1338909)
- Cited in: Myotonia fluctuans. A third type of muscle sodium channel disease. (PMID 7980103)