R456H (p.Arg456His) variant of ACADVL (P49748)
R456H (p.Arg456His) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R456H (p.Arg456His) variant details
- p.Arg456His
- rs794727112
- ClinGen CA240224
- NCI-TCGA Cosmic COSV5003
- cosmic curated COSV50039
- Likely pathogenic
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.95
- AlphaMissense 0.85
- MetaLR 0.96
- MetaSVM 1.09
- CADD 27.60
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Pathogenic (in ACADVLD)
- UniProt: Pathogenic (in ACADVLD)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. (PMID 9973285)
- Cited in: Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and… (PMID 10077518)