R78Q (p.Arg78Gln) variant of MUSK (O15146)
R78Q (p.Arg78Gln) 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; not provided; Fetal akinesia deformation sequence 1. 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.
R78Q (p.Arg78Gln) variant details
- p.Arg78Gln
- rs776815006
- ClinGen CA5183971
- ClinVar RCV000341644
- ClinVar RCV001217123
- Uncertain significance
- Inborn genetic diseases; not provided; Fetal akinesia deformation sequence 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.15
- MetaLR 0.09
- MetaSVM -0.93
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.38
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Fetal akinesia deformatio)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- 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)