V722A (p.Val722Ala) variant of MUSK (O15146)
V722A (p.Val722Ala) in MUSK (O15146) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
V722A (p.Val722Ala) variant details
- p.Val722Ala
- rs1238400476
- ClinGen CA374478388
- ClinVar RCV001064003
- gnomAD rs1238400476
- Pathogenic
- Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.80
- MetaLR 0.75
- MetaSVM 0.55
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic (Fetal akinesia deformation sequence 1; Congenital myasthenic syn)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)