L44V (p.Leu44Val) variant of ALDOB (Fructose-bisphosphate aldolase B)
L44V (p.Leu44Val) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L44V (p.Leu44Val) variant details
- p.Leu44Val
- TOPMed rs1387179219
- gnomAD rs1387179219
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- CADD 25.30
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available