Q45R (p.Gln45Arg) variant of ALDOB (Fructose-bisphosphate aldolase B)
Q45R (p.Gln45Arg) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
Q45R (p.Gln45Arg) variant details
- p.Gln45Arg
- ExAC rs758508874
- gnomAD rs758508874
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- CADD 22.20
- PolyPhen-2 0.21
- SIFT 0.22
- Most common in the HGDP:MAYA population (allele frequency 0.026)