R1734H (p.Arg1734His) variant of AGRN (Agrin)
R1734H (p.Arg1734His) in AGRN (Agrin) is a missense change. Clinical records from ClinVar and UniProt describe it as benign/likely 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 0.75 / 1. The record also includes population frequency data and published literature.
R1734H (p.Arg1734His) variant details
- p.Arg1734His
- rs145444272
- UniProt VAR 068743
- Benign/Likely benign
- Congenital myasthenic syndrome 8; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.76
- MetaLR 0.58
- MetaSVM 0.37
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Benign/Likely benign (Congenital myasthenic syndrome 8; not specified; not provided)
- UniProt: Likely benign (in dbSNP:rs145444272)
- Most common in the 1KG:MSL population (allele frequency 0.013)
- 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)