G80A (p.Gly80Ala) variant of ACADVL (P49748)
G80A (p.Gly80Ala) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Very long chain acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
G80A (p.Gly80Ala) variant details
- p.Gly80Ala
- rs1460278489
- ClinGen CA397722399
- ClinVar RCV003600069
- ClinVar RCV005407218
- Conflicting interpretations
- not specified; Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.86
- AlphaMissense 0.72
- MetaLR 0.96
- MetaSVM 1.09
- CADD 27.80
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)