A1514T (p.Ala1514Thr) variant of AGRN (Agrin)
A1514T (p.Ala1514Thr) 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 provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and published literature.
A1514T (p.Ala1514Thr) variant details
- p.Ala1514Thr
- rs111818381
- UniProt VAR 068738
- Benign/Likely benign
- Congenital myasthenic syndrome 8; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.12
- MetaLR 0.09
- MetaSVM -1.04
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.90
- ClinVar: Benign/Likely benign (Congenital myasthenic syndrome 8; not provided; not specified)
- UniProt: Likely benign (in dbSNP:rs111818381)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)