Q44R (p.Gln44Arg) variant of ACADM (P11310)
Q44R (p.Gln44Arg) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
Q44R (p.Gln44Arg) variant details
- p.Gln44Arg
- rs751647383
- ClinGen CA912973
- ClinVar RCV000254953
- ClinVar RCV000812228
- Uncertain significance
- not provided; Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.71
- CADD 24.00
- PolyPhen-2 0.15
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Medium-chain acyl-coenzyme A dehydrogenase deficie)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00022)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)