R206L (p.Arg206Leu) variant of ACADM (P11310)
R206L (p.Arg206Leu) 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. 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.
R206L (p.Arg206Leu) variant details
- p.Arg206Leu
- rs200724875
- ClinGen CA340815834
- ClinVar RCV000672738
- UniProt VAR 015957
- Pathogenic/Likely pathogenic
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.83
- CADD 32.00
- PolyPhen-2 0.64
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Medium-chain acyl-coenzyme A dehydrogenase deficiency)
- EBI: Pathogenic (in ACADMD)
- UniProt: Pathogenic (in ACADMD)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency. (PMID 10767181)
- Cited in: Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ… (PMID 11349232)