R53P (p.Arg53Pro) variant of SETD2 (Q9BYW2)
R53P (p.Arg53Pro) in SETD2 (Q9BYW2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance.
R53P (p.Arg53Pro) variant details
- p.Arg53Pro
- TOPMed rs745499104
- gnomAD rs745499104
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance