S1434Y (p.Ser1434Tyr) variant of SCN4A (Nav1.4)
S1434Y (p.Ser1434Tyr) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
S1434Y (p.Ser1434Tyr) variant details
- p.Ser1434Tyr
- rs1908553663
- ClinGen CA400616277
- ClinVar RCV001239764
- Ensembl rs1908553663
- Uncertain significance
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.90
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Hyperkalemic periodic paralysis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)