R18H (p.Arg18His) variant of SCN4A (Nav1.4)
R18H (p.Arg18His) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; not specified; Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R18H (p.Arg18His) variant details
- p.Arg18His
- rs557359808
- ClinGen CA8710299
- NCI-TCGA Cosmic COSV7112
- Uncertain significance
- not provided; not specified; Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.64
- CADD 22.60
- PolyPhen-2 0.20
- SIFT 0.06
- ClinVar: Uncertain significance (not provided; not specified; Hyperkalemic periodic paralysis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)