V23L (p.Val23Leu) variant of AGRN (Agrin)
V23L (p.Val23Leu) in AGRN (Agrin) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of not specified; Congenital myasthenic syndrome 8; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and published literature.
V23L (p.Val23Leu) variant details
- p.Val23Leu
- UniProt VAR 068724
- Conflicting interpretations
- not specified; Congenital myasthenic syndrome 8; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.04
- MetaLR 0.18
- MetaSVM -0.98
- CADD 14.00
- PolyPhen-2 0.01
- SIFT 0.92
- ClinVar: Conflicting classifications of pathogenicity (not specified; Congenital myasthenic syndrome 8; not provided)
- UniProt: Conflicting interpretations
- Most common in the East Asian population (allele frequency 2.5e-05)
- Cited in: Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. (PMID 19631309)