L519F (p.Leu519Phe) variant of UBE3A (Ubiquitin-protein ligase E3A)
L519F (p.Leu519Phe) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.
L519F (p.Leu519Phe) variant details
- p.Leu519Phe
- NCI-TCGA Cosmic COSV5166
- cosmic curated COSV51661
- NCI-TCGA Cosmic COSV5167
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.