R466Q (p.Arg466Gln) variant of SELENON (Selenoprotein N)
R466Q (p.Arg466Gln) in SELENON (Selenoprotein N) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of SEPN1-related disorder; Muscular dystrophy; Inborn genetic diseases. The record also includes variant effect predictions, population frequency data, and published literature.
R466Q (p.Arg466Gln) variant details
- p.Arg466Gln
- rs121908185
- UniProt VAR 019641
- Pathogenic/Likely pathogenic
- SEPN1-related disorder; Muscular dystrophy; Inborn genetic diseases
- Missense
- REVEL 0.73
- MetaLR 0.63
- MetaSVM 0.47
- CADD 24.20
- PolyPhen-2 0.33
- SIFT 0.79
- ClinVar: Pathogenic/Likely pathogenic (Eichsfeld type congenital muscular dystrophy; not provided)
- EBI: Pathogenic (in CMYO3)
- UniProt: Pathogenic (in CMYO3)
- Most common in the East Asian population (allele frequency 0.00015)
- Cited in: Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle. (PMID 18713863)
- Cited in: Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical… (PMID 12192640)