S133L (p.Ser133Leu) variant of CLU (Clusterin)
S133L (p.Ser133Leu) in CLU (Clusterin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S133L (p.Ser133Leu) variant details
- p.Ser133Leu
- ExAC rs779845036
- TOPMed rs779845036
- gnomAD rs779845036
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.48
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available