G6E (p.Gly6Glu) variant of ACADM (P11310)
G6E (p.Gly6Glu) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Medium-chain acyl-coenzyme A dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G6E (p.Gly6Glu) variant details
- p.Gly6Glu
- rs372088389
- ClinGen CA912892
- ClinVar RCV002815101
- ClinVar RCV005782332
- Likely pathogenic
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.30
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.99
- ClinVar: Likely pathogenic (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 2.4e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)