R31H (p.Arg31His) variant of ACADM (P11310)
R31H (p.Arg31His) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R31H (p.Arg31His) variant details
- p.Arg31His
- rs529894272
- ClinGen CA912941
- ClinVar RCV001065937
- 1000Genomes rs529894272
- Pathogenic/Likely pathogenic
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.74
- CADD 0.86
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Pathogenic/Likely pathogenic (Medium-chain acyl-coenzyme A dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)