D3V (p.Asp3Val) variant of ASXL3 (Q9C0F0)
D3V (p.Asp3Val) in ASXL3 (Q9C0F0) 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.
D3V (p.Asp3Val) variant details
- p.Asp3Val
- gnomAD 18-33578639-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.98
- CADD 23.50
- PolyPhen-2 0.11
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available