R43C (p.Arg43Cys) variant of ALDOB (Fructose-bisphosphate aldolase B)
R43C (p.Arg43Cys) 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 not provided; Hereditary fructosuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R43C (p.Arg43Cys) variant details
- p.Arg43Cys
- rs772473508
- ClinGen CA5161719
- ClinVar RCV001167306
- ClinVar RCV004590111
- Uncertain significance
- not provided; Hereditary fructosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- CADD 29.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Hereditary fructosuria)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available
- Cited in: Hereditary Fructose Intolerance. (PMID 26677512)