L84F (p.Leu84Phe) variant of ALDOB (Fructose-bisphosphate aldolase B)
L84F (p.Leu84Phe) in ALDOB (Fructose-bisphosphate aldolase B) 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 0.63 / 1. The record also includes population frequency data and published literature.
L84F (p.Leu84Phe) variant details
- p.Leu84Phe
- rs769043841
- ClinGen CA5161688
- ClinVar RCV003342557
- ExAC rs769043841
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- CADD 22.60
- PolyPhen-2 0.21
- SIFT 0.19
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)