E14Q (p.Glu14Gln) variant of MECP2 (Methyl-CpG-binding protein 2)
E14Q (p.Glu14Gln) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes population frequency data, experimental measurements, and structural context.
E14Q (p.Glu14Gln) variant details
- p.Glu14Gln
- TOPMed rs2065991940
- gnomAD rs2065991940
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.707