F1705L (p.Phe1705Leu) variant of SCN4A (Nav1.4)
F1705L (p.Phe1705Leu) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
F1705L (p.Phe1705Leu) variant details
- p.Phe1705Leu
- rs1908515104
- ClinGen CA400613990
- ClinVar RCV001211315
- Ensembl rs1908515104
- Uncertain significance
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.88
- CADD 28.00
- PolyPhen-2 0.77
- SIFT 0.02
- ClinVar: Uncertain significance (Hyperkalemic periodic paralysis)
- EBI: Variant of uncertain significance (in PMC)
- UniProt: Uncertain significance (in PMC)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)