R138C (p.Arg138Cys) variant of CLU (Clusterin)
R138C (p.Arg138Cys) in CLU (Clusterin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R138C (p.Arg138Cys) variant details
- p.Arg138Cys
- ExAC rs757239189
- TOPMed rs757239189
- gnomAD rs757239189
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.28
- CADD 31.00
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available