Q7* (p.Gln7Ter) variant of MMUT (P22033)
Q7* (p.Gln7Ter) in MMUT (P22033) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions, population frequency data, published literature, and structural context.
Q7* (p.Gln7Ter) variant details
- p.Gln7Ter
- rs761773115
- ClinGen CA347859
- ClinVar RCV000203322
- ClinVar RCV001293610
- Pathogenic
- Stop Gained
- MutPred 0.21
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)