D9H (p.Asp9His) variant of ASXL3 (Q9C0F0)
D9H (p.Asp9His) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
D9H (p.Asp9His) variant details
- p.Asp9His
- gnomAD 18-33578656-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.99
- MetaLR 0.02
- MetaSVM -1.05
- CADD 23.30
- Population evidence available
- Structural context available
- Literature evidence available