Q45H (p.Gln45His) variant of ALDOB (Fructose-bisphosphate aldolase B)
Q45H (p.Gln45His) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
Q45H (p.Gln45His) variant details
- p.Gln45His
- cosmic curated COSV10087
- Ensembl rs1013015077
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- CADD 23.50
- PolyPhen-2 0.61
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)