W453S (p.Trp453Ser) variant of SELENON (Selenoprotein N)
W453S (p.Trp453Ser) in SELENON (Selenoprotein N) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Eichsfeld type congenital muscular dystrophy. The record also includes variant effect predictions, population frequency data, and published literature.
W453S (p.Trp453Ser) variant details
- p.Trp453Ser
- rs121908186
- UniProt VAR 019639
- Likely pathogenic
- Eichsfeld type congenital muscular dystrophy
- Missense
- REVEL 0.94
- MetaLR 0.89
- MetaSVM 1.00
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Eichsfeld type congenital muscular dystrophy)
- EBI: Pathogenic (in CMYO3)
- UniProt: Pathogenic (in CMYO3)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Cited in: Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical… (PMID 12192640)
- Cited in: Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. (PMID 11528383)