R43H (p.Arg43His) variant of ALDOB (Fructose-bisphosphate aldolase B)
R43H (p.Arg43His) 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 not provided; Hereditary fructosuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R43H (p.Arg43His) variant details
- p.Arg43His
- rs780442649
- ClinGen CA5161718
- NCI-TCGA Cosmic COSV6639
- cosmic curated COSV66398
- Uncertain significance
- not provided; Hereditary fructosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- CADD 28.10
- PolyPhen-2 0.95
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; 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)