I575T (p.Ile575Thr) variant of MUSK (O15146)
I575T (p.Ile575Thr) in MUSK (O15146) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Congenital myasthenic syndrome 9; Fetal akinesia deformation sequence 1; Bilater. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
I575T (p.Ile575Thr) variant details
- p.Ile575Thr
- rs751889864
- ClinGen CA5184434
- ClinVar RCV000170588
- ClinVar RCV000414863
- Pathogenic/Likely pathogenic
- Congenital myasthenic syndrome 9; Fetal akinesia deformation sequence 1; Bilater
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.88
- MetaLR 0.82
- MetaSVM 0.80
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Congenital myasthenic syndrome 9; Fetal akinesia deformation seq)
- EBI: Pathogenic (in FADS1)
- UniProt: Pathogenic (in FADS1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence. (PMID 25537362)
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)