Q30* (p.Gln30Ter) variant of MMUT (P22033)
Q30* (p.Gln30Ter) in MMUT (P22033) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q30* (p.Gln30Ter) variant details
- p.Gln30Ter
- rs879253824
- ClinGen CA10575887
- ClinVar RCV000236911
- ClinVar RCV003556263
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)