A375S (p.Ala375Ser) variant of AGRN (Agrin)
A375S (p.Ala375Ser) 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 0.40 / 1. The record also includes population frequency data and published literature.
A375S (p.Ala375Ser) variant details
- p.Ala375Ser
- rs138031468
- UniProt VAR 068728
- Benign/Likely benign
- Congenital myasthenic syndrome 8; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.27
- MetaLR 0.32
- MetaSVM -0.58
- CADD 20.50
- PolyPhen-2 0.75
- SIFT 0.04
- ClinVar: Benign/Likely benign (Congenital myasthenic syndrome 8; not specified; not provided)
- UniProt: Likely benign (in dbSNP:rs138031468)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)