W13L (p.Trp13Leu) variant of ASXL1 (Polycomb group protein ASXL1)
W13L (p.Trp13Leu) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
W13L (p.Trp13Leu) variant details
- p.Trp13Leu
- gnomAD 20-32358813-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.29
- CADD 24.50
- PolyPhen-2 0.34
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available