M1T (p.Met1Thr) variant of ALDOB (Fructose-bisphosphate aldolase B)
M1T (p.Met1Thr) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 population frequency data and published literature.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1270747182
- ClinGen CA374266321
- ClinVar RCV001215627
- Pathogenic/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: Pathogenic/Likely pathogenic (Hereditary fructosuria)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Cited in: Hereditary Fructose Intolerance. (PMID 26677512)