D3E (p.Asp3Glu) variant of ASXL1 (Polycomb group protein ASXL1)
D3E (p.Asp3Glu) 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.
D3E (p.Asp3Glu) variant details
- p.Asp3Glu
- gnomAD 20-32358784-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.10
- CADD 19.10
- PolyPhen-2 0.23
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available