A56P (p.Ala56Pro) variant of ACADM (P11310)
A56P (p.Ala56Pro) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
A56P (p.Ala56Pro) variant details
- p.Ala56Pro
- rs1424560976
- ClinGen CA340809346
- ClinVar RCV003504501
- gnomAD rs1424560976
- Likely pathogenic
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.93
- CADD 27.10
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Medium-chain acyl-coenzyme A dehydrogenase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)