E112A (p.Glu112Ala) variant of CLU (Clusterin)
E112A (p.Glu112Ala) in CLU (Clusterin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
E112A (p.Glu112Ala) variant details
- p.Glu112Ala
- TOPMed rs1461611022
- gnomAD rs1461611022
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.59
- CADD 28.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available