G12V (p.Gly12Val) variant of UBE3A (Ubiquitin-protein ligase E3A)
G12V (p.Gly12Val) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
G12V (p.Gly12Val) variant details
- p.Gly12Val
- rs864309506
- Pathogenic
- Missense
- EBI: ['pathogenic']
- UniProt: Pathogenic
- Structural context available