C215R (p.Cys215Arg) variant of ACADVL (P49748)
C215R (p.Cys215Arg) 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
C215R (p.Cys215Arg) variant details
- p.Cys215Arg
- rs2508296669
- ClinGen CA397723375
- ClinVar RCV003455820
- Likely pathogenic
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.95
- AlphaMissense 0.24
- MetaLR 0.10
- MetaSVM -1.03
- CADD 28.60
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)