V164G (p.Val164Gly) variant of ACADVL (P49748)
V164G (p.Val164Gly) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
V164G (p.Val164Gly) variant details
- p.Val164Gly
- rs2071225938
- ClinGen CA397723022
- ClinVar RCV001200821
- TOPMed rs2071225938
- Conflicting interpretations
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.70
- AlphaMissense 0.21
- MetaLR 0.97
- MetaSVM 1.06
- CADD 22.50
- 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 1.8e-06)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)