P1240L (p.Pro1240Leu) variant of AGRN (Agrin)
P1240L (p.Pro1240Leu) in AGRN (Agrin) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Congenital myasthenic syndrome 8; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and published literature.
P1240L (p.Pro1240Leu) variant details
- p.Pro1240Leu
- rs142620337
- UniProt VAR 068735
- Conflicting interpretations
- Congenital myasthenic syndrome 8; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.55
- MetaLR 0.41
- MetaSVM -0.14
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Congenital myasthenic syndrome 8; not specified; not provided)
- UniProt: Conflicting interpretations (in dbSNP:rs142620337)
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- 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)