M1V (p.Met1Val) variant of ALDOB (Fructose-bisphosphate aldolase B)
M1V (p.Met1Val) 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.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs2490130765
- ClinGen CA374266324
- ClinVar RCV003084680
- Likely pathogenic
- Hereditary fructosuria
- Missense
- ClinVar: Likely pathogenic (Hereditary fructosuria)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Hereditary Fructose Intolerance. (PMID 26677512)