M334R (p.Met334Arg) variant of ACADVL (P49748)
M334R (p.Met334Arg) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
M334R (p.Met334Arg) variant details
- p.Met334Arg
- rs398123079
- ClinGen CA285287
- ClinVar RCV000077898
- ClinVar RCV000668860
- Uncertain significance
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.94
- AlphaMissense 0.89
- MetaLR 0.98
- MetaSVM 1.09
- CADD 26.90
- PolyPhen-2 0.96
- ClinVar: Uncertain significance (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 2.9e-05)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)