A281P (p.Ala281Pro) variant of ACADVL (P49748)
A281P (p.Ala281Pro) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Very long chain acyl-CoA dehydrogenase deficiency; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
A281P (p.Ala281Pro) variant details
- p.Ala281Pro
- rs2142978096
- ClinGen CA397723800
- ClinVar RCV001369986
- ClinVar RCV004770121
- Uncertain significance
- Very long chain acyl-CoA dehydrogenase deficiency; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- AlphaMissense 0.95
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Uncertain significance (Very long chain acyl-CoA dehydrogenase deficiency; not specified)
- EBI: Variant of uncertain significance (in ACADVLD)
- UniProt: Uncertain significance (in ACADVLD)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)