R281T (p.Arg281Thr) variant of ACADM (P11310)
R281T (p.Arg281Thr) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Medium-chain acyl-coenzyme A dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R281T (p.Arg281Thr) variant details
- p.Arg281Thr
- rs121434282
- ClinGen CA252834
- ClinVar RCV000003779
- UniProt VAR 013700
- Uncertain significance
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.96
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Medium-chain acyl-coenzyme A dehydrogenase defici)
- EBI: Pathogenic (in ACADMD)
- UniProt: Pathogenic (in ACADMD)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency. (PMID 11486912)
- Cited in: Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency. (PMID 10767181)