K54E (p.Lys54Glu) variant of CLU (Clusterin)
K54E (p.Lys54Glu) in CLU (Clusterin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
K54E (p.Lys54Glu) variant details
- p.Lys54Glu
- ExAC rs779803164
- TOPMed rs779803164
- gnomAD rs779803164
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.21
- CADD 23.70
- PolyPhen-2 0.59
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available