E23K (p.Glu23Lys) variant of SCN4A (Nav1.4)
E23K (p.Glu23Lys) 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 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
E23K (p.Glu23Lys) variant details
- p.Glu23Lys
- rs756692670
- ClinGen CA8710294
- ClinVar RCV002002760
- ExAC rs756692670
- Uncertain significance
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.68
- CADD 23.70
- PolyPhen-2 0.11
- SIFT 0.01
- ClinVar: Uncertain significance (Hyperkalemic periodic paralysis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)