C215S (p.Cys215Ser) variant of ACADVL (P49748)
C215S (p.Cys215Ser) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
C215S (p.Cys215Ser) variant details
- p.Cys215Ser
- rs761405004
- ClinGen CA8337800
- ClinVar RCV002623419
- ExAC rs761405004
- Conflicting interpretations
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.92
- AlphaMissense 0.71
- MetaLR 0.94
- MetaSVM 1.11
- CADD 27.10
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)