V1727F (p.Val1727Phe) variant of AGRN (Agrin)
V1727F (p.Val1727Phe) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
V1727F (p.Val1727Phe) variant details
- p.Val1727Phe
- UniProt VAR 069066
- Pathogenic
- Congenital myasthenic syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.84
- MetaLR 0.81
- MetaSVM 0.86
- CADD 25.70
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic (Congenital myasthenic syndrome 8)
- EBI: Pathogenic (in CMS8)
- UniProt: Pathogenic (in CMS8)
- Population evidence available
- Structural context available
- Cited in: LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-)… (PMID 22205389)
- Cited in: Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. (PMID 19631309)