E12* (p.Glu12Ter) variant of CUX1 (Homeobox protein cut-like 1)
E12* (p.Glu12Ter) in CUX1 (Homeobox protein cut-like 1) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E12* (p.Glu12Ter) variant details
- p.Glu12Ter
- NCI-TCGA Cosmic COSV9947
- cosmic curated COSV99472
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.855
- CADD 37.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- CUX1 Homeobox domain domainome 1.0: score -0.306