P219A (p.Pro219Ala) variant of ACADVL (P49748)
P219A (p.Pro219Ala) 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 0.70 / 1. The record also includes population frequency data and structural context.
P219A (p.Pro219Ala) variant details
- p.Pro219Ala
- ExAC rs772898391
- TOPMed rs772898391
- gnomAD rs772898391
- Uncertain significance
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.86
- AlphaMissense 0.18
- MetaLR 0.94
- MetaSVM 1.06
- CADD 20.60
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available