R349Q (p.Arg349Gln) variant of ACADM (P11310)
R349Q (p.Arg349Gln) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R349Q (p.Arg349Gln) variant details
- p.Arg349Gln
- rs760335676
- ClinGen CA913268
- ClinVar RCV001982238
- ExAC rs760335676
- Pathogenic/Likely pathogenic
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.40
- AlphaMissense 0.22
- MetaLR 0.72
- MetaSVM 0.36
- CADD 24.40
- PolyPhen-2 0.62
- ClinVar: Pathogenic/Likely pathogenic (Medium-chain acyl-coenzyme A dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)