M478V (p.Met478Val) variant of UBE3A (Ubiquitin-protein ligase E3A)
M478V (p.Met478Val) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance.
M478V (p.Met478Val) variant details
- p.Met478Val
- rs864309507
- Uncertain significance
- Missense
- EBI: ['uncertain-significance']
- UniProt: Uncertain significance