M589I (p.Met589Ile) variant of UBE3A (Ubiquitin-protein ligase E3A)
M589I (p.Met589Ile) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in AS.
M589I (p.Met589Ile) variant details
- p.Met589Ile
- NCI-TCGA Cosmic COSV5166
- cosmic curated COSV51667
- Uncertain significance
- in AS
- Missense
- EBI: uncertain significance (in AS)
- UniProt: Uncertain significance (in AS)