L7D (p.Leu7Asp) variant of CTNNB1 (Catenin beta-1)
L7D (p.Leu7Asp) in CTNNB1 (Catenin beta-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L7D (p.Leu7Asp) variant details
- p.Leu7Asp
- gnomAD 3-41224529-ATT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.619
- CADD 24.20
- Population evidence available
- Structural context available
- Literature evidence available