G1875R (p.Gly1875Arg) variant of AGRN (Agrin)
G1875R (p.Gly1875Arg) in AGRN (Agrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital myasthenic syndrome 8. The record also includes variant effect predictions and published literature.
G1875R (p.Gly1875Arg) variant details
- p.Gly1875Arg
- UniProt VAR 071369
- Uncertain significance
- Congenital myasthenic syndrome 8
- Missense
- MetaLR 0.12
- MetaSVM -0.95
- SIFT 0.28
- ClinVar: Uncertain significance (Congenital myasthenic syndrome 8)
- EBI: Pathogenic (in CMS8)
- UniProt: Pathogenic (in CMS8)
- Cited in: Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy. (PMID 24951643)
- Cited in: Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. (PMID 19631309)