S22G (p.Ser22Gly) variant of ALDOB (Fructose-bisphosphate aldolase B)
S22G (p.Ser22Gly) 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 0.35 / 1. The record also includes published literature.
S22G (p.Ser22Gly) variant details
- p.Ser22Gly
- rs1831208641
- ClinGen CA374266186
- ClinVar RCV002702961
- TOPMed rs1831208641
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- AlphaMissense 0.07
- MetaLR 0.33
- MetaSVM -0.72
- PolyPhen-2 0.00
- SIFT 0.04
- EVE 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)