Q47* (p.Gln47Ter) variant of MMAB (Q96EY8)
Q47* (p.Gln47Ter) in MMAB (Q96EY8) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q47* (p.Gln47Ter) variant details
- p.Gln47Ter
- rs1884632948
- ClinGen CA386640512
- ClinVar RCV003502005
- TOPMed rs1884632948
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)