E15D (p.Glu15Asp) variant of ASXL1 (Polycomb group protein ASXL1)
E15D (p.Glu15Asp) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
E15D (p.Glu15Asp) variant details
- p.Glu15Asp
- gnomAD 20-32358820-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.09
- CADD 23.10
- PolyPhen-2 0.04
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available