L247R (p.Leu247Arg) variant of UBE3A (Ubiquitin-protein ligase E3A)
L247R (p.Leu247Arg) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.
L247R (p.Leu247Arg) variant details
- p.Leu247Arg
- NCI-TCGA Cosmic COSV9921
- cosmic curated COSV99217
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.