H24R (p.His24Arg) variant of ACADM (P11310)
H24R (p.His24Arg) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Medium-chain acyl-coenzyme A dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
H24R (p.His24Arg) variant details
- p.His24Arg
- rs141772163
- ClinGen CA912935
- ClinVar RCV002471557
- ESP rs141772163
- Uncertain significance
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.39
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Uncertain significance (Medium-chain acyl-coenzyme A dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)