G76S (p.Gly76Ser) variant of AGRN (Agrin)
G76S (p.Gly76Ser) in AGRN (Agrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital myasthenic syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and published literature.
G76S (p.Gly76Ser) variant details
- p.Gly76Ser
- UniProt VAR 071367
- Pathogenic
- Congenital myasthenic syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.80
- MetaLR 0.36
- MetaSVM -0.27
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Congenital myasthenic syndrome 8)
- EBI: Pathogenic (in CMS8)
- UniProt: Pathogenic (in CMS8)
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)