R53H (p.Arg53His) variant of ACADM (P11310)
R53H (p.Arg53His) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R53H (p.Arg53His) variant details
- p.Arg53His
- rs754938068
- ClinGen CA912976
- ClinVar RCV000211492
- ClinVar RCV001753639
- Conflicting interpretations
- not provided; Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.79
- CADD 23.50
- PolyPhen-2 0.17
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (not provided; Medium-chain acyl-coenzyme A dehydrogenase deficie)
- EBI: Variant of uncertain significance (in ACADMD)
- UniProt: Uncertain significance (in ACADMD)
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)