R64L (p.Arg64Leu) variant of KMT2D (O14686)
R64L (p.Arg64Leu) in KMT2D (O14686) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
R64L (p.Arg64Leu) variant details
- p.Arg64Leu
- TOPMed rs587778462
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available