A415V (p.Ala415Val) variant of ACADVL (P49748)
A415V (p.Ala415Val) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Very long chain acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A415V (p.Ala415Val) variant details
- p.Ala415Val
- rs2508341456
- ClinGen CA397724678
- ClinVar RCV002874596
- ClinVar RCV005021715
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.88
- CADD 27.00
- PolyPhen-2 0.47
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Very long chain acyl-CoA dehydrogenase)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)