E11D (p.Glu11Asp) variant of ALDOB (Fructose-bisphosphate aldolase B)
E11D (p.Glu11Asp) 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 0.11 / 1. The record also includes population frequency data.
E11D (p.Glu11Asp) variant details
- p.Glu11Asp
- 1000Genomes rs544090689
- ExAC rs544090689
- gnomAD rs544090689
- Uncertain significance
- ALDOB-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- CADD 7.51
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (ALDOB-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BRAHUI population (allele frequency 0.022)