R46K (p.Arg46Lys) variant of ALDOB (Fructose-bisphosphate aldolase B)
R46K (p.Arg46Lys) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R46K (p.Arg46Lys) variant details
- p.Arg46Lys
- rs199920124
- ClinGen CA196958120
- NCI-TCGA Cosmic COSV6639
- cosmic curated COSV66398
- Uncertain significance
- Hereditary fructosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (Hereditary fructosuria)
- EBI: Variant of uncertain significance (in HFI)
- UniProt: Uncertain significance (in HFI)
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available
- Cited in: Hereditary Fructose Intolerance. (PMID 26677512)