R60Q (p.Arg60Gln) variant of ALDOB (Fructose-bisphosphate aldolase B)
R60Q (p.Arg60Gln) 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; not provided; Hereditary fructosuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and published literature.
R60Q (p.Arg60Gln) variant details
- p.Arg60Gln
- rs141267935
- ClinGen CA5161704
- cosmic curated COSV66398
- ClinVar RCV000731956
- Uncertain significance
- Inborn genetic diseases; not provided; Hereditary fructosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- CADD 27.70
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Hereditary fructosuria)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- 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)