R53C (p.Arg53Cys) variant of ACADM (P11310)
R53C (p.Arg53Cys) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Medium-chain acyl-coenzyme A dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R53C (p.Arg53Cys) variant details
- p.Arg53Cys
- rs398123072
- ClinGen CA220173
- NCI-TCGA Cosmic COSV6372
- cosmic curated COSV63720
- Pathogenic
- not provided; Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.92
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Pathogenic (not provided; Medium-chain acyl-coenzyme A dehydrogenase deficie)
- EBI: Pathogenic (in ACADMD)
- UniProt: Pathogenic (in ACADMD)
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available
- Cited in: Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene. (PMID 1363805)
- Cited in: Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency. (PMID 10767181)