R37W (p.Arg37Trp) variant of ACADVL (P49748)
R37W (p.Arg37Trp) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Very long chain acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R37W (p.Arg37Trp) variant details
- p.Arg37Trp
- rs536992268
- ClinGen CA8337546
- ClinVar RCV000367977
- ClinVar RCV002450886
- Uncertain significance
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.32
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)