R56C (p.Arg56Cys) variant of ALDOB (Fructose-bisphosphate aldolase B)
R56C (p.Arg56Cys) 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; Hereditary fructosuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and published literature.
R56C (p.Arg56Cys) variant details
- p.Arg56Cys
- rs201397971
- ClinGen CA5161711
- NCI-TCGA Cosmic COSV6639
- cosmic curated COSV66397
- Uncertain significance
- Inborn genetic diseases; Hereditary fructosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Hereditary fructosuria)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.0002)
- Cited in: Hereditary Fructose Intolerance. (PMID 26677512)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)