T1118K (p.Thr1118Lys) variant of AGRN (Agrin)
T1118K (p.Thr1118Lys) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and published literature.
T1118K (p.Thr1118Lys) variant details
- p.Thr1118Lys
- rs149159118
- UniProt VAR 068733
- Conflicting interpretations
- Congenital myasthenic syndrome 8; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.45
- MetaLR 0.50
- MetaSVM 0.16
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Congenital myasthenic syndrome 8; not provided)
- UniProt: Conflicting interpretations (in dbSNP:rs149159118)
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Cited in: Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. (PMID 19631309)