M1R (p.Met1Arg) variant of ALDOB (Fructose-bisphosphate aldolase B)
M1R (p.Met1Arg) 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 0.84 / 1. The record also includes published literature.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs1270747182
- ClinGen CA374266320
- ClinVar RCV003048085
- Likely pathogenic
- Hereditary fructosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- MetaLR 0.80
- MetaSVM 0.75
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 1.00
- ClinVar: Likely pathogenic (Hereditary fructosuria)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Hereditary Fructose Intolerance. (PMID 26677512)