P1451L (p.Pro1451Leu) variant of AGRN (Agrin)
P1451L (p.Pro1451Leu) 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 0.23 / 1. The record also includes population frequency data and published literature.
P1451L (p.Pro1451Leu) variant details
- p.Pro1451Leu
- UniProt VAR 068737
- Benign/Likely benign
- Congenital myasthenic syndrome 8; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.21
- MetaLR 0.10
- MetaSVM -0.93
- CADD 5.75
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Benign/Likely benign (Congenital myasthenic syndrome 8; not specified; not provided)
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Cited in: Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. (PMID 19631309)