D9Y (p.Asp9Tyr) variant of ASXL3 (Q9C0F0)
D9Y (p.Asp9Tyr) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
D9Y (p.Asp9Tyr) variant details
- p.Asp9Tyr
- gnomAD 18-33578656-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.94
- MetaLR 0.03
- MetaSVM -1.05
- CADD 23.70
- Population evidence available
- Structural context available
- Literature evidence available