C113R (p.Cys113Arg) variant of CLU (Clusterin)
C113R (p.Cys113Arg) in CLU (Clusterin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
C113R (p.Cys113Arg) variant details
- p.Cys113Arg
- TOPMed rs1233946390
- gnomAD rs1233946390
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.78
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available