L19P (p.Leu19Pro) variant of ASXL1 (Polycomb group protein ASXL1)
L19P (p.Leu19Pro) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L19P (p.Leu19Pro) variant details
- p.Leu19Pro
- gnomAD 20-32358831-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.16
- CADD 25.50
- PolyPhen-2 0.60
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available