G75R (p.Gly75Arg) variant of ALDOB (Fructose-bisphosphate aldolase B)
G75R (p.Gly75Arg) 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 Hereditary fructosuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
G75R (p.Gly75Arg) variant details
- p.Gly75Arg
- rs747604233
- ClinGen CA5161695
- cosmic curated COSV10971
- ClinVar RCV002954646
- Uncertain significance
- Hereditary fructosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- CADD 24.40
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary fructosuria)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- 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)