I78M (p.Ile78Met) variant of ACADM (P11310)
I78M (p.Ile78Met) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
I78M (p.Ile78Met) variant details
- p.Ile78Met
- rs1158457053
- ClinGen CA340809832
- ClinVar RCV002049713
- TOPMed rs1158457053
- Pathogenic/Likely pathogenic
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.73
- CADD 24.20
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Medium-chain acyl-coenzyme A dehydrogenase deficiency)
- EBI: Pathogenic (in ACADMD)
- UniProt: Pathogenic (in ACADMD)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)