Q44R (p.Gln44Arg) variant of SCN4A (Nav1.4)
Q44R (p.Gln44Arg) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Q44R (p.Gln44Arg) variant details
- p.Gln44Arg
- rs2143027631
- ClinGen CA400640411
- ClinVar RCV002008571
- Ensembl rs2143027631
- Uncertain significance
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.31
- CADD 18.40
- PolyPhen-2 0.01
- SIFT 0.58
- ClinVar: Uncertain significance (Hyperkalemic periodic paralysis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)