I347L (p.Ile347Leu) variant of UBE3A (Ubiquitin-protein ligase E3A)
I347L (p.Ile347Leu) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.
I347L (p.Ile347Leu) variant details
- p.Ile347Leu
- NCI-TCGA Cosmic COSV9921
- cosmic curated COSV99217
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.