D58N (p.Asp58Asn) variant of AGRN (Agrin)
D58N (p.Asp58Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and published literature.
D58N (p.Asp58Asn) variant details
- p.Asp58Asn
- UniProt VAR 068725
- Uncertain significance
- Congenital myasthenic syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.27
- MetaLR 0.13
- MetaSVM -1.00
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Congenital myasthenic syndrome 8)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Cited in: Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. (PMID 19631309)