G463V (p.Gly463Val) variant of SELENON (Selenoprotein N)
G463V (p.Gly463Val) in SELENON (Selenoprotein N) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CMYO3. The record also includes variant effect predictions and published literature.
G463V (p.Gly463Val) variant details
- p.Gly463Val
- UniProt VAR 058462
- Pathogenic
- in CMYO3
- Missense
- MetaLR 0.78
- MetaSVM 0.71
- SIFT 0.02
- EBI: Pathogenic (in CMYO3)
- UniProt: Pathogenic (in CMYO3)
- 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)