A312V (p.Ala312Val) variant of UBE3A (Ubiquitin-protein ligase E3A)
A312V (p.Ala312Val) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.
A312V (p.Ala312Val) variant details
- p.Ala312Val
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.