E46G (p.Glu46Gly) variant of SCN4A (Nav1.4)
E46G (p.Glu46Gly) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E46G (p.Glu46Gly) variant details
- p.Glu46Gly
- rs1909654912
- ClinGen CA400640394
- ClinVar RCV001201623
- Ensembl rs1909654912
- Uncertain significance
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.28
- CADD 20.50
- PolyPhen-2 0.02
- SIFT 0.31
- ClinVar: Uncertain significance (Hyperkalemic periodic paralysis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)