L19R (p.Leu19Arg) variant of ASXL1 (Polycomb group protein ASXL1)
L19R (p.Leu19Arg) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L19R (p.Leu19Arg) variant details
- p.Leu19Arg
- gnomAD 20-32358831-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.19
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available