R11L (p.Arg11Leu) variant of ASXL1 (Polycomb group protein ASXL1)
R11L (p.Arg11Leu) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R11L (p.Arg11Leu) variant details
- p.Arg11Leu
- gnomAD 20-32358807-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.18
- CADD 25.90
- PolyPhen-2 0.49
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available