D105E (p.Asp105Glu) variant of MEF2C (Q06413)
D105E (p.Asp105Glu) in MEF2C (Q06413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
D105E (p.Asp105Glu) variant details
- p.Asp105Glu
- rs2548167816
- ClinGen CA360424612
- ClinVar RCV003319736
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available