G69R (p.Gly69Arg) variant of SCN4A (Nav1.4)
G69R (p.Gly69Arg) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Paramyotonia congenita of Von Eulenburg; not specified; Hyperkalemic periodic pa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
G69R (p.Gly69Arg) variant details
- p.Gly69Arg
- rs886053249
- ClinGen CA10650663
- ClinVar RCV000268113
- ClinVar RCV000307851
- Uncertain significance
- Paramyotonia congenita of Von Eulenburg; not specified; Hyperkalemic periodic pa
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.74
- CADD 24.10
- PolyPhen-2 0.50
- SIFT 0.01
- ClinVar: Uncertain significance (Paramyotonia congenita of Von Eulenburg; not specified; Hyperkal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:DAI population (allele frequency 0.056)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)