D3Y (p.Asp3Tyr) variant of ASXL3 (Q9C0F0)
D3Y (p.Asp3Tyr) in ASXL3 (Q9C0F0) 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.
D3Y (p.Asp3Tyr) variant details
- p.Asp3Tyr
- gnomAD 18-33578638-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.95
- CADD 23.90
- PolyPhen-2 0.20
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available