I47S (p.Ile47Ser) variant of ALDOB (Fructose-bisphosphate aldolase B)
I47S (p.Ile47Ser) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
I47S (p.Ile47Ser) variant details
- p.Ile47Ser
- Ensembl rs1831192961
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- CADD 28.40
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available