P185R (p.Pro185Arg) variant of ALDOB (Fructose-bisphosphate aldolase B)
P185R (p.Pro185Arg) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary fructosuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature.
P185R (p.Pro185Arg) variant details
- p.Pro185Arg
- rs2118350958
- ClinGen CA374265123
- ClinVar RCV001376707
- Ensembl rs2118350958
- Likely pathogenic
- Hereditary fructosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.954
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Likely pathogenic (Hereditary fructosuria)
- EBI: Pathogenic (in HFI)
- UniProt: Pathogenic (in HFI)
- Cited in: Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain. (PMID 12205126)
- Cited in: Hereditary Fructose Intolerance. (PMID 26677512)