Q45H (p.Gln45His) variant of ACADM (P11310)
Q45H (p.Gln45His) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Medium-chain acyl-coenzyme A dehydrogenase deficiency. The record also includes published literature and structural context.
Q45H (p.Gln45His) variant details
- p.Gln45His
- rs111347361
- ClinGen CA340809161
- ClinVar RCV002834268
- Likely pathogenic
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- ClinVar: Likely pathogenic (Medium-chain acyl-coenzyme A dehydrogenase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)