M1L (p.Met1Leu) variant of ALDOB (Fructose-bisphosphate aldolase B)
M1L (p.Met1Leu) 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 record also includes published literature.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs2490130765
- ClinGen CA374266323
- ClinVar RCV003599815
- Likely pathogenic
- Hereditary fructosuria
- Missense
- ClinVar: Likely pathogenic (Hereditary fructosuria)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Hereditary Fructose Intolerance. (PMID 26677512)