T83N (p.Thr83Asn) variant of ALDOB (Fructose-bisphosphate aldolase B)
T83N (p.Thr83Asn) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data.
T83N (p.Thr83Asn) variant details
- p.Thr83Asn
- TOPMed rs568367333
- gnomAD rs568367333
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)