L202P (p.Leu202Pro) variant of ACADVL (P49748)
L202P (p.Leu202Pro) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
L202P (p.Leu202Pro) variant details
- p.Leu202Pro
- rs398123090
- ClinGen CA220216
- ClinVar RCV000723640
- ClinVar RCV001200734
- Likely pathogenic
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.95
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.91
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)