G1709R (p.Gly1709Arg) variant of AGRN (Agrin)
G1709R (p.Gly1709Arg) 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 0.82 / 1. The record also includes population frequency data and published literature.
G1709R (p.Gly1709Arg) variant details
- p.Gly1709Arg
- UniProt VAR 068742
- Pathogenic
- Congenital myasthenic syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.88
- MetaLR 0.70
- MetaSVM 0.61
- CADD 28.00
- 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 HGDP:BURUSHO population (allele frequency 0.042)
- Cited in: Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. (PMID 19631309)
- Cited in: LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-)… (PMID 22205389)