V984M (p.Val984Met) variant of AGRN (Agrin)
V984M (p.Val984Met) in AGRN (Agrin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Congenital myasthenic syndrome 8; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and published literature.
V984M (p.Val984Met) variant details
- p.Val984Met
- UniProt VAR 068731
- Uncertain significance
- Congenital myasthenic syndrome 8; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.13
- MetaLR 0.19
- MetaSVM -0.91
- CADD 4.55
- PolyPhen-2 0.02
- SIFT 0.11
- ClinVar: Uncertain significance (Congenital myasthenic syndrome 8; Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Cited in: Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. (PMID 19631309)