L27F (p.Leu27Phe) variant of ACADVL (P49748)
L27F (p.Leu27Phe) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Very long chain acyl-CoA dehydrogenase deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
L27F (p.Leu27Phe) variant details
- p.Leu27Phe
- rs1597516267
- ClinGen CA397722050
- ClinVar RCV000811848
- ClinVar RCV001772097
- Uncertain significance
- Very long chain acyl-CoA dehydrogenase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- AlphaMissense 0.07
- MetaLR 0.75
- MetaSVM -0.09
- PolyPhen-2 0.00
- SIFT 0.01
- MutPred 0.23
- ClinVar: Uncertain significance (Very long chain acyl-CoA dehydrogenase deficiency; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)