Y28* (p.Tyr28Ter) variant of MLC1 (Membrane protein MLC1)
Y28* (p.Tyr28Ter) in MLC1 (Membrane protein MLC1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
Y28* (p.Tyr28Ter) variant details
- p.Tyr28Ter
- rs1057516286
- ClinGen CA16042031
- ClinVar RCV000411151
- TOPMed rs1057516286
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Megalencephalic Leukoencephalopathy with Subcortical Cysts. (PMID 20301707)