R38Q (p.Arg38Gln) variant of SCN4A (Nav1.4)
R38Q (p.Arg38Gln) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital myasthenic syndrome 16; Hyperkalemic periodic paralysis; Hypokalemic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R38Q (p.Arg38Gln) variant details
- p.Arg38Gln
- rs772546656
- ClinGen CA8710280
- ClinVar RCV000483033
- ClinVar RCV001323820
- Uncertain significance
- Congenital myasthenic syndrome 16; Hyperkalemic periodic paralysis; Hypokalemic
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.23
- CADD 15.70
- PolyPhen-2 0.04
- SIFT 0.21
- ClinVar: Uncertain significance (Congenital myasthenic syndrome 16; Hyperkalemic periodic paralys)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)