E76A (p.Glu76Ala) variant of CLU (Clusterin)
E76A (p.Glu76Ala) in CLU (Clusterin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E76A (p.Glu76Ala) variant details
- p.Glu76Ala
- ESP rs372043736
- ExAC rs372043736
- TOPMed rs372043736
- gnomAD rs372043736
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.14
- CADD 24.40
- PolyPhen-2 0.19
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 8.3e-05)
- Structural context available