L2* (p.Leu2Ter) variant of CUX1 (Homeobox protein cut-like 1)
L2* (p.Leu2Ter) in CUX1 (Homeobox protein cut-like 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L2* (p.Leu2Ter) variant details
- p.Leu2Ter
- gnomAD rs1477929719
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.385
- CADD 21.70
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- CUX1 CUT domain domainome 1.0: score -0.329