A2V (p.Ala2Val) variant of ALDOB (Fructose-bisphosphate aldolase B)
A2V (p.Ala2Val) 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 0.72 / 1. The record also includes population frequency data and published literature.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs930944969
- ClinGen CA196958401
- ClinVar RCV002879403
- TOPMed rs930944969
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- CADD 22.40
- PolyPhen-2 0.10
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-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)