T9N (p.Thr9Asn) variant of ALDOB (Fructose-bisphosphate aldolase B)
T9N (p.Thr9Asn) 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 0.42 / 1. The record also includes population frequency data.
T9N (p.Thr9Asn) variant details
- p.Thr9Asn
- cosmic curated COSV10087
- TOPMed rs1588172747
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- CADD 17.20
- PolyPhen-2 0.02
- SIFT 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)