G441A (p.Gly441Ala) variant of ACADVL (P49748)
G441A (p.Gly441Ala) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Very long chain acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G441A (p.Gly441Ala) variant details
- p.Gly441Ala
- rs2309689
- ClinGen CA397724865
- ClinVar RCV000989694
- ExAC rs2309689
- Conflicting interpretations
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.94
- CADD 26.30
- PolyPhen-2 0.58
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Pathogenic (in ACADVLD)
- UniProt: Pathogenic (in ACADVLD)
- Population evidence available
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)