Q90H (p.Gln90His) variant of ALDOB (Fructose-bisphosphate aldolase B)
Q90H (p.Gln90His) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data.
Q90H (p.Gln90His) variant details
- p.Gln90His
- TOPMed rs1176960115
- gnomAD rs1176960115
- NCI-TCGA Cosmic COSV6639
- cosmic curated COSV66397
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)