T52I (p.Thr52Ile) variant of ALDOB (Fructose-bisphosphate aldolase B)
T52I (p.Thr52Ile) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
T52I (p.Thr52Ile) variant details
- p.Thr52Ile
- gnomAD rs1241120665
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- CADD 23.50
- PolyPhen-2 0.40
- SIFT 0.05
- Most common in the South Asian population (allele frequency 3.5e-05)