R57P (p.Arg57Pro) variant of ALDOB (Fructose-bisphosphate aldolase B)
R57P (p.Arg57Pro) 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 0.85 / 1. The record also includes published literature.
R57P (p.Arg57Pro) variant details
- p.Arg57Pro
- rs370761101
- ClinGen CA374265954
- ClinVar RCV001376702
- ESP rs370761101
- Likely pathogenic
- Hereditary fructosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Likely pathogenic (Hereditary fructosuria)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Hereditary Fructose Intolerance. (PMID 26677512)