C3* (p.Cys3Ter) variant of CUX1 (Homeobox protein cut-like 1)
C3* (p.Cys3Ter) in CUX1 (Homeobox protein cut-like 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
C3* (p.Cys3Ter) variant details
- p.Cys3Ter
- 1000Genomes rs542931508
- TOPMed rs542931508
- gnomAD rs542931508
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.357
- CADD 15.70
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- CUX1 CUT domain domainome 1.0: score -0.227