V11A (p.Val11Ala) variant of ACADM (P11310)
V11A (p.Val11Ala) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Medium-chain acyl-coenzyme A dehydrogenase deficiency. The record also includes published literature and structural context.
V11A (p.Val11Ala) variant details
- p.Val11Ala
- rs2525551634
- ClinGen CA340806748
- ClinVar RCV002301080
- Uncertain significance
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- ClinVar: Uncertain significance (Medium-chain acyl-coenzyme A dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)