D9V (p.Asp9Val) variant of ASXL3 (Q9C0F0)
D9V (p.Asp9Val) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
D9V (p.Asp9Val) variant details
- p.Asp9Val
- gnomAD 18-33578657-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.98
- MetaLR 0.02
- MetaSVM -1.01
- CADD 24.10
- Population evidence available
- Structural context available
- Literature evidence available