M326T (p.Met326Thr) variant of ACADM (P11310)
M326T (p.Met326Thr) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Medium-chain acyl-coenzyme A dehydrogenase deficiency; See cases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
M326T (p.Met326Thr) variant details
- p.Met326Thr
- rs786204631
- ClinGen CA274268
- ClinVar RCV000169406
- ClinVar RCV004584359
- Pathogenic
- Medium-chain acyl-coenzyme A dehydrogenase deficiency; See cases
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.96
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Medium-chain acyl-coenzyme A dehydrogenase deficiency; See cases)
- EBI: Pathogenic (in ACADMD)
- UniProt: Pathogenic (in ACADMD)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene. (PMID 8198141)
- Cited in: Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency. (PMID 10767181)