I32F (p.Ile32Phe) variant of SETD2 (Q9BYW2)
I32F (p.Ile32Phe) in SETD2 (Q9BYW2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes experimental measurements and structural context.
I32F (p.Ile32Phe) variant details
- p.Ile32Phe
- TOPMed rs1170321784
- gnomAD rs1170321784
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.215