V63E (p.Val63Glu) variant of KMT2D (O14686)
V63E (p.Val63Glu) in KMT2D (O14686) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
V63E (p.Val63Glu) variant details
- p.Val63Glu
- TOPMed rs886049488
- gnomAD rs886049488
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available