R12Q (p.Arg12Gln) variant of ACADVL (P49748)
R12Q (p.Arg12Gln) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R12Q (p.Arg12Gln) variant details
- p.Arg12Gln
- rs1198265143
- ClinGen CA397721959
- ClinVar RCV003214388
- gnomAD rs1198265143
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- CADD 23.30
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.001)
- 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)