Q852R (p.Gln852Arg) variant of AGRN (Agrin)
Q852R (p.Gln852Arg) in AGRN (Agrin) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of not provided; Congenital myasthenic syndrome 8; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and published literature.
Q852R (p.Gln852Arg) variant details
- p.Gln852Arg
- rs9697293
- Benign
- not provided; Congenital myasthenic syndrome 8; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0742
- REVEL 0.04
- MetaLR 0.00
- MetaSVM -1.09
- CADD 0.67
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Benign (not provided; Congenital myasthenic syndrome 8; not specified)
- UniProt: Benign (in dbSNP:rs9697293)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)
- Cited in: Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. (PMID 19631309)