A7T (p.Ala7Thr) variant of KMT2D (O14686)
A7T (p.Ala7Thr) in KMT2D (O14686) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
A7T (p.Ala7Thr) variant details
- p.Ala7Thr
- ExAC rs748617194
- TOPMed rs748617194
- gnomAD rs748617194
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available