G441D (p.Gly441Asp) variant of ACADVL (P49748)
G441D (p.Gly441Asp) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Very long chain acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G441D (p.Gly441Asp) variant details
- p.Gly441Asp
- rs2309689
- ClinGen CA220193
- ClinVar RCV000020072
- ClinVar RCV000077903
- Pathogenic
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.98
- CADD 28.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Pathogenic (in ACADVLD)
- UniProt: Pathogenic (in ACADVLD)
- Population evidence available
- Structural context available
- Cited in: Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and… (PMID 10077518)
- Cited in: Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene… (PMID 8845838)