L545P (p.Leu545Pro) variant of MUSK (O15146)
L545P (p.Leu545Pro) in MUSK (O15146) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Congenital myasthenic syndrome 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
L545P (p.Leu545Pro) variant details
- p.Leu545Pro
- ExAC rs761470115
- gnomAD rs761470115
- Likely pathogenic
- Congenital myasthenic syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.70
- MetaLR 0.69
- MetaSVM 0.41
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Congenital myasthenic syndrome 9)
- UniProt: Likely pathogenic
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available