D104G (p.Asp104Gly) variant of ACADM (P11310)
D104G (p.Asp104Gly) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
D104G (p.Asp104Gly) variant details
- p.Asp104Gly
- rs1647187729
- ClinGen CA340811938
- ClinVar RCV001970949
- TOPMed rs1647187729
- Likely pathogenic
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.85
- CADD 25.90
- PolyPhen-2 0.75
- SIFT 0.05
- ClinVar: Likely pathogenic (Medium-chain acyl-coenzyme A dehydrogenase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)