E3Q (p.Glu3Gln) variant of MUSK (O15146)
E3Q (p.Glu3Gln) in MUSK (O15146) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E3Q (p.Glu3Gln) variant details
- p.Glu3Gln
- ExAC rs762340994
- TOPMed rs762340994
- gnomAD rs762340994
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.19
- MetaLR 0.31
- MetaSVM -0.39
- CADD 22.80
- PolyPhen-2 0.15
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available