R38W (p.Arg38Trp) variant of SCN4A (Nav1.4)
R38W (p.Arg38Trp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R38W (p.Arg38Trp) variant details
- p.Arg38Trp
- rs776201356
- ClinGen CA8710281
- ClinVar RCV002637332
- ClinVar RCV003140128
- Uncertain significance
- Hyperkalemic periodic paralysis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.46
- CADD 22.70
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Uncertain significance (Hyperkalemic periodic paralysis; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)