L63F (p.Leu63Phe) variant of ALDOB (Fructose-bisphosphate aldolase B)
L63F (p.Leu63Phe) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary fructosuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L63F (p.Leu63Phe) variant details
- p.Leu63Phe
- rs780352710
- ClinGen CA5161703
- NCI-TCGA Cosmic COSV6639
- cosmic curated COSV66397
- Uncertain significance
- Hereditary fructosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- CADD 26.60
- PolyPhen-2 0.95
- SIFT 0.02
- ClinVar: Uncertain significance (Hereditary fructosuria)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Hereditary Fructose Intolerance. (PMID 26677512)