L202V (p.Leu202Val) variant of ACADVL (P49748)
L202V (p.Leu202Val) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Very long chain acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
L202V (p.Leu202Val) variant details
- p.Leu202Val
- rs2071234346
- ClinGen CA397723261
- ClinVar RCV002895688
- TOPMed rs2071234346
- Pathogenic/Likely pathogenic
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.94
- AlphaMissense 0.28
- MetaLR 1.00
- MetaSVM 0.93
- CADD 25.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)