I70T (p.Ile70Thr) variant of ALDOB (Fructose-bisphosphate aldolase B)
I70T (p.Ile70Thr) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
I70T (p.Ile70Thr) variant details
- p.Ile70Thr
- rs752633158
- NCI-TCGA Cosmic COSV6639
- cosmic curated COSV66397
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- CADD 26.90
- PolyPhen-2 0.82
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available