G45V (p.Gly45Val) variant of UBE3A (Ubiquitin-protein ligase E3A)
G45V (p.Gly45Val) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes experimental measurements and structural context.
G45V (p.Gly45Val) variant details
- p.Gly45Val
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available
- UBE3A Ubiquitin-protein ligase E3A, N-terminal zinc-binding domain domainome 1.0: score -0.217