R450H (p.Arg450His) variant of ACADVL (P49748)
R450H (p.Arg450His) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R450H (p.Arg450His) variant details
- p.Arg450His
- rs118204016
- ClinGen CA251910
- cosmic curated COSV10583
- NCI-TCGA Cosmic COSV5003
- Likely pathogenic
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.92
- CADD 32.00
- PolyPhen-2 0.99
- 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 East Asian population (allele frequency 0.00039)
- Structural context available
- Cited in: Myopathic form of very-long chain acyl-coa dehydrogenase deficiency: evidence for temperature-sensitive mild mutations… (PMID 11158518)
- Cited in: Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset. (PMID 9546340)