R127C (p.Arg127Cys) variant of CLU (Clusterin)
R127C (p.Arg127Cys) in CLU (Clusterin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R127C (p.Arg127Cys) variant details
- p.Arg127Cys
- cosmic curated COSV57067
- ExAC rs769250405
- TOPMed rs769250405
- gnomAD rs769250405
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.20
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available