I70F (p.Ile70Phe) variant of ALDOB (Fructose-bisphosphate aldolase B)
I70F (p.Ile70Phe) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
I70F (p.Ile70Phe) variant details
- p.Ile70Phe
- ExAC rs757318986
- TOPMed rs757318986
- gnomAD rs757318986
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- CADD 8.72
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the South Asian population (allele frequency 0.00062)
- Structural context available