Q44* (p.Gln44Ter) variant of ACADM (P11310)
Q44* (p.Gln44Ter) in ACADM (P11310) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q44* (p.Gln44Ter) variant details
- p.Gln44Ter
- rs2525572000
- ClinGen CA340809132
- ClinVar RCV003610327
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)