R53L (p.Arg53Leu) variant of SETD2 (Q9BYW2)
R53L (p.Arg53Leu) in SETD2 (Q9BYW2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance.
R53L (p.Arg53Leu) variant details
- p.Arg53Leu
- TOPMed rs745499104
- gnomAD rs745499104
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance