L311P (p.Leu311Pro) variant of ALDOB (Fructose-bisphosphate aldolase B)
L311P (p.Leu311Pro) 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 0.86 / 1. The record also includes published literature and structural context.
L311P (p.Leu311Pro) variant details
- p.Leu311Pro
- rs2118342191
- ClinGen CA374264322
- ClinVar RCV001376713
- Ensembl rs2118342191
- Likely pathogenic
- Hereditary fructosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- AlphaMissense 0.97
- MetaLR 0.89
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Likely pathogenic (Hereditary fructosuria)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Hereditary Fructose Intolerance. (PMID 26677512)