R1671Q (p.Arg1671Gln) variant of AGRN (Agrin)
R1671Q (p.Arg1671Gln) in AGRN (Agrin) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Congenital myasthenic syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and published literature.
R1671Q (p.Arg1671Gln) variant details
- p.Arg1671Gln
- UniProt VAR 068740
- Conflicting interpretations
- Inborn genetic diseases; Congenital myasthenic syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.24
- MetaLR 0.19
- MetaSVM -0.95
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Congenital myasthenic syndrome 8)
- UniProt: Conflicting interpretations
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Cited in: Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. (PMID 19631309)