D530G (p.Asp530Gly) variant of UBE3A (Ubiquitin-protein ligase E3A)
D530G (p.Asp530Gly) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.
D530G (p.Asp530Gly) variant details
- p.Asp530Gly
- NCI-TCGA Cosmic COSV5166
- cosmic curated COSV51668
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.