M6I (p.Met6Ile) variant of ACADVL (P49748)
M6I (p.Met6Ile) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
M6I (p.Met6Ile) variant details
- p.Met6Ile
- rs1427232700
- ClinGen CA397721926
- ClinVar RCV002750793
- TOPMed rs1427232700
- Uncertain significance
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.19
- CADD 9.10
- PolyPhen-2 0.00
- SIFT 0.44
- 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 1.5e-05)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)