R456C (p.Arg456Cys) variant of ACADVL (P49748)
R456C (p.Arg456Cys) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Very long chain acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R456C (p.Arg456Cys) variant details
- p.Arg456Cys
- rs794727111
- ClinGen CA240222
- NCI-TCGA Cosmic COSV5003
- cosmic curated COSV50035
- Conflicting interpretations
- not provided; Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.89
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance (in ACADVLD)
- UniProt: Uncertain significance (in ACADVLD)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301763)