R281S (p.Arg281Ser) variant of ACADM (P11310)
R281S (p.Arg281Ser) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R281S (p.Arg281Ser) variant details
- p.Arg281Ser
- rs780504551
- ClinGen CA913211
- ClinVar RCV000665026
- ExAC rs780504551
- Likely pathogenic
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.92
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Medium-chain acyl-coenzyme A dehydrogenase deficiency)
- EBI: Pathogenic (in ACADMD)
- UniProt: Pathogenic (in ACADMD)
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)