A513P (p.Ala513Pro) variant of ACADVL (P49748)
A513P (p.Ala513Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes structural context.
A513P (p.Ala513Pro) variant details
- p.Ala513Pro
- rs2142987648
- ClinGen CA397725334
- ClinVar RCV001763345
- Ensembl rs2142987648
- Uncertain significance
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- AlphaMissense 0.59
- MetaLR 0.48
- MetaSVM -0.34
- PolyPhen-2 0.90
- SIFT 0.14
- MutPred 0.27
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available