G76V (p.Gly76Val) variant of ALDOB (Fructose-bisphosphate aldolase B)
G76V (p.Gly76Val) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
G76V (p.Gly76Val) variant details
- p.Gly76Val
- rs764779161
- ClinGen CA374265836
- ClinVar RCV002248966
- ExAC rs764779161
- Likely pathogenic
- Hereditary fructosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary fructosuria)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Hereditary Fructose Intolerance. (PMID 26677512)