V107L (p.Val107Leu) variant of MEF2C (Q06413)
V107L (p.Val107Leu) in MEF2C (Q06413) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes population frequency data and structural context.
V107L (p.Val107Leu) variant details
- p.Val107Leu
- ExAC rs750647048
- TOPMed rs750647048
- gnomAD rs750647048
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available