R456P (p.Arg456Pro) variant of ACADVL (P49748)
R456P (p.Arg456Pro) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Very long chain acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
R456P (p.Arg456Pro) variant details
- p.Arg456Pro
- rs794727112
- ClinGen CA397724967
- ClinVar RCV001989479
- ClinVar RCV005433114
- Conflicting interpretations
- not specified; Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.931
- AlphaMissense 0.85
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Conflicting classifications of pathogenicity (not specified; Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Likely pathogenic (in ACADVLD)
- UniProt: Likely pathogenic (in ACADVLD)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)