L149F (p.Leu149Phe) variant of UBE3A (Ubiquitin-protein ligase E3A)
L149F (p.Leu149Phe) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Angelman syndrome.
L149F (p.Leu149Phe) variant details
- p.Leu149Phe
- NCI-TCGA TCGA novel
- Uncertain significance
- Angelman syndrome
- Missense
- ClinVar: Uncertain significance (Angelman syndrome)
- UniProt: Uncertain significance