E111K (p.Glu111Lys) variant of ACADM (P11310)
E111K (p.Glu111Lys) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing n. 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.
E111K (p.Glu111Lys) variant details
- p.Glu111Lys
- rs772061007
- ClinGen CA340812136
- ClinVar RCV003610615
- ExAC rs772061007
- Pathogenic/Likely pathogenic
- MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing n
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.93
- AlphaMissense 0.64
- MetaLR 0.99
- MetaSVM 1.00
- CADD 33.00
- PolyPhen-2 0.88
- ClinVar: Pathogenic/Likely pathogenic (MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full AC)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)