E47K (p.Glu47Lys) variant of ACADM (P11310)
E47K (p.Glu47Lys) 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 0.74 / 1. The record also includes published literature and structural context.
E47K (p.Glu47Lys) variant details
- p.Glu47Lys
- rs2100362559
- ClinGen CA340809180
- cosmic curated COSV10820
- ClinVar RCV001559196
- Uncertain significance
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- AlphaMissense 0.59
- MetaLR 0.98
- MetaSVM 1.18
- PolyPhen-2 0.40
- SIFT 0.10
- EVE 0.29
- ClinVar: Uncertain significance (Medium-chain acyl-coenzyme A dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)