L20Y (p.Leu20Tyr) variant of CUX1 (Homeobox protein cut-like 1)
L20Y (p.Leu20Tyr) in CUX1 (Homeobox protein cut-like 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L20Y (p.Leu20Tyr) variant details
- p.Leu20Tyr
- gnomAD 7-101816077-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.581
- CADD 26.30
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- CUX1 Homeobox domain domainome 1.0: score -0.137
- Literature evidence available