G1341R (p.Gly1341Arg) variant of AGRN (Agrin)
G1341R (p.Gly1341Arg) in AGRN (Agrin) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Congenital myasthenic syndrome 8; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and published literature.
G1341R (p.Gly1341Arg) variant details
- p.Gly1341Arg
- UniProt VAR 068736
- Conflicting interpretations
- Congenital myasthenic syndrome 8; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.77
- MetaLR 0.90
- MetaSVM 0.99
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Congenital myasthenic syndrome 8; not provided)
- UniProt: Conflicting interpretations
- Most common in the African/African-American population (allele frequency 0.00041)
- Cited in: Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. (PMID 19631309)