K69N (p.Lys69Asn) variant of MUSK (O15146)
K69N (p.Lys69Asn) in MUSK (O15146) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
K69N (p.Lys69Asn) variant details
- p.Lys69Asn
- rs2076206381
- ClinGen CA374664144
- ClinVar RCV001943666
- gnomAD rs2076206381
- Uncertain significance
- Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.16
- MetaLR 0.22
- MetaSVM -0.75
- CADD 23.10
- PolyPhen-2 0.24
- SIFT 0.02
- ClinVar: Uncertain significance (Fetal akinesia deformation sequence 1; Congenital myasthenic syn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)