G441S (p.Gly441Ser) variant of ACADVL (P49748)
G441S (p.Gly441Ser) 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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G441S (p.Gly441Ser) variant details
- p.Gly441Ser
- rs2071346777
- ClinGen CA397724862
- ClinVar RCV001200704
- Ensembl rs2071346777
- Conflicting interpretations
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- REVEL 0.99
- CADD 29.60
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance (in ACADVLD)
- UniProt: Uncertain significance (in ACADVLD)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)