E3K (p.Glu3Lys) variant of MUSK (O15146)
E3K (p.Glu3Lys) in MUSK (O15146) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Fetal akinesia deformation sequence 1; Congenital myast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E3K (p.Glu3Lys) variant details
- p.Glu3Lys
- rs762340994
- ClinGen CA5183889
- cosmic curated COSV51887
- ClinVar RCV002638254
- Uncertain significance
- Inborn genetic diseases; Fetal akinesia deformation sequence 1; Congenital myast
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.20
- MetaLR 0.26
- MetaSVM -0.44
- CADD 23.30
- PolyPhen-2 0.08
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases; Fetal akinesia deformation sequence 1;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)