E3V (p.Glu3Val) variant of SUFU (Suppressor of fused homolog)
E3V (p.Glu3Val) in SUFU (Suppressor of fused homolog) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
E3V (p.Glu3Val) variant details
- p.Glu3Val
- ExAC rs757097388
- gnomAD rs757097388
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available