R1698P (p.Arg1698Pro) variant of AGRN (Agrin)
R1698P (p.Arg1698Pro) in AGRN (Agrin) is a missense change. The record also includes variant effect predictions and published literature.
R1698P (p.Arg1698Pro) variant details
- p.Arg1698Pro
- UniProt VAR 068741
- Missense
- MetaLR 0.15
- MetaSVM -0.93
- SIFT 0.01
- Cited in: Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. (PMID 19631309)