T260M (p.Thr260Met) variant of ACADVL (P49748)
T260M (p.Thr260Met) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Very long chain acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
T260M (p.Thr260Met) variant details
- p.Thr260Met
- rs113994168
- ClinGen CA341526
- ClinVar RCV000020080
- ClinVar RCV000429481
- Likely pathogenic
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.88
- CADD 25.10
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Pathogenic (in ACADVLD)
- UniProt: Pathogenic (in ACADVLD)
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available
- Cited in: Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and… (PMID 10077518)
- Cited in: Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene… (PMID 8845838)