H293R (p.His293Arg) variant of SELENON (Selenoprotein N)
H293R (p.His293Arg) 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; Eichsfeld type congenital muscular dystrophy. The record also includes variant effect predictions, population frequency data, and published literature.
H293R (p.His293Arg) variant details
- p.His293Arg
- rs776738184
- UniProt VAR 019636
- Pathogenic/Likely pathogenic
- SEPN1-related disorder; Eichsfeld type congenital muscular dystrophy
- Missense
- REVEL 0.95
- MetaLR 0.88
- MetaSVM 0.96
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (SEPN1-related disorder; Eichsfeld type congenital muscular dystr)
- EBI: Pathogenic (in CMYO3)
- UniProt: Pathogenic (in CMYO3)
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Cited in: Functional effects of mutations identified in patients with multiminicore disease. (PMID 17365175)
- Cited in: SEPN1: associated with congenital fiber-type disproportion and insulin resistance. (PMID 16365872)