L19L (p.Leu19Leu) variant of ASXL1 (Polycomb group protein ASXL1)
L19L (p.Leu19Leu) in ASXL1 (Polycomb group protein ASXL1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L19L (p.Leu19Leu) variant details
- p.Leu19Leu
- gnomAD 20-32358830-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.441
- CADD 19.20
- Population evidence available
- Structural context available
- Literature evidence available