D3E (p.Asp3Glu) variant of ASXL3 (Q9C0F0)
D3E (p.Asp3Glu) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
D3E (p.Asp3Glu) variant details
- p.Asp3Glu
- gnomAD 18-33578640-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.85
- CADD 20.80
- PolyPhen-2 0.02
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available