G362E (p.Gly362Glu) variant of ACADM (P11310)
G362E (p.Gly362Glu) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Medium-chain acyl-coenzyme A dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G362E (p.Gly362Glu) variant details
- p.Gly362Glu
- rs150310121
- ClinGen CA913272
- ClinVar RCV001046173
- 1000Genomes rs150310121
- Pathogenic
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.88
- CADD 24.40
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (Medium-chain acyl-coenzyme A dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)