Q1135R (p.Gln1135Arg) variant of AGRN (Agrin)
Q1135R (p.Gln1135Arg) in AGRN (Agrin) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of Congenital myasthenic syndrome 8; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and published literature.
Q1135R (p.Gln1135Arg) variant details
- p.Gln1135Arg
- rs142416636
- UniProt VAR 068734
- Benign
- Congenital myasthenic syndrome 8; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.19
- MetaLR 0.07
- MetaSVM -1.01
- CADD 25.60
- PolyPhen-2 0.76
- SIFT 0.02
- ClinVar: Benign (Congenital myasthenic syndrome 8; not specified; not provided)
- UniProt: Benign (in dbSNP:rs142416636)
- Most common in the East Asian population (allele frequency 0.00015)
- 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)