M149I (p.Met149Ile) variant of ACADM (P11310)
M149I (p.Met149Ile) 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.
M149I (p.Met149Ile) variant details
- p.Met149Ile
- rs121434277
- ClinGen CA913107
- ClinVar RCV000211526
- UniProt VAR 000319
- Pathogenic/Likely pathogenic
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.68
- CADD 23.70
- PolyPhen-2 0.05
- SIFT 0.05
- ClinVar: Pathogenic/Likely pathogenic (Medium-chain acyl-coenzyme A dehydrogenase deficiency)
- EBI: Pathogenic (in ACADMD)
- UniProt: Pathogenic (in ACADMD)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the… (PMID 1684086)
- Cited in: Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency. (PMID 10767181)