S1434P (p.Ser1434Pro) variant of SCN4A (Nav1.4)
S1434P (p.Ser1434Pro) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
S1434P (p.Ser1434Pro) variant details
- p.Ser1434Pro
- rs1567816549
- ClinGen CA400616279
- ClinVar RCV000685540
- Ensembl rs1567816549
- Pathogenic
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.84
- CADD 25.80
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic (Hyperkalemic periodic paralysis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)