G267R (p.Gly267Arg) variant of ACADM (P11310)
G267R (p.Gly267Arg) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G267R (p.Gly267Arg) variant details
- p.Gly267Arg
- rs121434274
- ClinGen CA252824
- ClinVar RCV000003771
- ClinVar RCV000185665
- Pathogenic/Likely pathogenic
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.98
- AlphaMissense 0.67
- MetaLR 0.96
- MetaSVM 1.10
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Medium-chain acyl-coenzyme A dehydrogenase deficiency)
- EBI: Pathogenic (in ACADMD)
- UniProt: Pathogenic (in ACADMD)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the… (PMID 1684086)
- Cited in: Short-Chain Acyl-CoA Dehydrogenase Deficiency. (PMID 21938826)