N105I (p.Asn105Ile) variant of AGRN (Agrin)

Name: AGRN N105I (p.Asn105Ile) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-22
License: https://catvariant.com/terms-of-use

N105I (p.Asn105Ile) in AGRN (Agrin) is a missense change. The available record places it in the context of Congenital myasthenic syndrome. The record also includes variant effect predictions and published literature.

N105I (p.Asn105Ile) variant details

p.Asn105Ile
UniProt VAR 068726
not provided
Congenital myasthenic syndrome
Missense
MetaLR 0.15
MetaSVM -0.86
SIFT 0.00
ClinVar: not provided (Congenital myasthenic syndrome)
EBI: Pathogenic (in CMS8)
UniProt: Pathogenic (in CMS8)
Cited in: Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. (PMID 19631309)
Cited in: Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy. (PMID 24951643)