G48A (p.Gly48Ala) variant of SETD2 (Q9BYW2)
G48A (p.Gly48Ala) 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.
G48A (p.Gly48Ala) variant details
- p.Gly48Ala
- ExAC rs760120112
- TOPMed rs760120112
- gnomAD rs760120112
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- SETD2 WW domain domainome 1.0: score 0.0365