T267M (p.Thr267Met) variant of AGRN (Agrin)
T267M (p.Thr267Met) in AGRN (Agrin) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Congenital myasthenic syndrome 8; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and published literature.
T267M (p.Thr267Met) variant details
- p.Thr267Met
- UniProt VAR 068727
- Conflicting interpretations
- Inborn genetic diseases; Congenital myasthenic syndrome 8; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.27
- MetaLR 0.56
- MetaSVM 0.01
- CADD 23.60
- PolyPhen-2 0.90
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Congenital myasthenic syndrome 8; not p)
- UniProt: Conflicting interpretations
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Cited in: Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. (PMID 19631309)