K720E (p.Lys720Glu) variant of MUSK (O15146)
K720E (p.Lys720Glu) 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 0.63 / 1. The record also includes population frequency data and structural context.
K720E (p.Lys720Glu) variant details
- p.Lys720Glu
- TOPMed rs1319315530
- gnomAD rs1319315530
- Likely pathogenic
- Congenital myasthenic syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.79
- MetaLR 0.21
- MetaSVM -0.71
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Congenital myasthenic syndrome 9)
- UniProt: Likely pathogenic
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available