F94L (p.Phe94Leu) variant of ALDOB (Fructose-bisphosphate aldolase B)
F94L (p.Phe94Leu) 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 0.42 / 1. The record also includes population frequency data and published literature.
F94L (p.Phe94Leu) variant details
- p.Phe94Leu
- rs549682194
- ClinGen CA5161685
- ClinVar RCV004400689
- ExAC rs549682194
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- CADD 21.70
- PolyPhen-2 0.09
- SIFT 0.12
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- 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)