Q1565H (p.Gln1565His) variant of AGRN (Agrin)
Q1565H (p.Gln1565His) in AGRN (Agrin) is a missense change. Clinical records from ClinVar and UniProt describe it as benign/likely benign in the context of not specified; Congenital myasthenic syndrome 8; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and published literature.
Q1565H (p.Gln1565His) variant details
- p.Gln1565His
- rs199876002
- UniProt VAR 068739
- Benign/Likely benign
- not specified; Congenital myasthenic syndrome 8; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.29
- MetaLR 0.31
- MetaSVM -0.51
- CADD 14.80
- PolyPhen-2 0.01
- SIFT 0.48
- ClinVar: Benign/Likely benign (not specified; Congenital myasthenic syndrome 8; not provided)
- UniProt: Likely benign (in dbSNP:rs199876002)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Cited in: Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. (PMID 19631309)