R57W (p.Arg57Trp) variant of ALDOB (Fructose-bisphosphate aldolase B)
R57W (p.Arg57Trp) 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 ALDOB-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
R57W (p.Arg57Trp) variant details
- p.Arg57Trp
- rs570143313
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10087
- 1000Genomes rs570143313
- Uncertain significance
- ALDOB-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (ALDOB-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.011)