D3G (p.Asp3Gly) variant of ASXL1 (Polycomb group protein ASXL1)
D3G (p.Asp3Gly) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
D3G (p.Asp3Gly) variant details
- p.Asp3Gly
- gnomAD 20-32358783-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.09
- CADD 27.40
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available