R469Q (p.Arg469Gln) variant of SELENON (Selenoprotein N)
R469Q (p.Arg469Gln) 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 not provided; Eichsfeld type congenital muscular dystrophy. The record also includes variant effect predictions, population frequency data, and published literature.
R469Q (p.Arg469Gln) variant details
- p.Arg469Gln
- rs779162837
- UniProt VAR 058463
- Pathogenic/Likely pathogenic
- not provided; Eichsfeld type congenital muscular dystrophy
- Missense
- REVEL 0.87
- MetaLR 0.75
- MetaSVM 0.63
- CADD 26.10
- PolyPhen-2 0.33
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Eichsfeld type congenital muscular dystrophy)
- EBI: Pathogenic (in CMYO3)
- UniProt: Pathogenic (in CMYO3)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Cited in: A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to… (PMID 19067361)
- Cited in: Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. (PMID 11528383)