R294T (p.Arg294Thr) variant of ACADM (P11310)
R294T (p.Arg294Thr) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R294T (p.Arg294Thr) variant details
- p.Arg294Thr
- rs779759347
- ClinGen CA913234
- ClinVar RCV000211542
- ClinVar RCV000421774
- Pathogenic/Likely pathogenic
- Medium-chain acyl-coenzyme A dehydrogenase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.97
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Medium-chain acyl-coenzyme A dehydrogenase deficiency; not provi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)