R413H (p.Arg413His) variant of ACADM (P11310)
R413H (p.Arg413His) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Medium-chain acyl-coenzyme A dehydrogenase deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R413H (p.Arg413His) variant details
- p.Arg413His
- rs1337929727
- ClinGen CA340818477
- ClinVar RCV000544203
- ClinVar RCV000759412
- Conflicting interpretations
- Medium-chain acyl-coenzyme A dehydrogenase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.93
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Medium-chain acyl-coenzyme A dehydrogenase deficiency; not provi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 9e-05)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)