I413T (p.Ile413Thr) variant of ACADVL (P49748)
I413T (p.Ile413Thr) 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
I413T (p.Ile413Thr) variant details
- p.Ile413Thr
- rs775980475
- ClinGen CA8338044
- ClinVar RCV003474375
- ExAC rs775980475
- Likely pathogenic
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.82
- CADD 24.20
- PolyPhen-2 0.49
- SIFT 0.02
- ClinVar: Likely pathogenic (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)