A20V (p.Ala20Val) variant of ALDOB (Fructose-bisphosphate aldolase B)
A20V (p.Ala20Val) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- ExAC rs763957973
- TOPMed rs763957973
- gnomAD rs763957973
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- CADD 24.10
- PolyPhen-2 0.42
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available