K8M (p.Lys8Met) variant of ASXL3 (Q9C0F0)
K8M (p.Lys8Met) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
K8M (p.Lys8Met) variant details
- p.Lys8Met
- gnomAD 18-33578654-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.12
- ESM-1b 0.91
- AlphaMissense 0.99
- MetaLR 0.15
- MetaSVM -0.91
- CADD 25.80
- Population evidence available
- Structural context available
- Literature evidence available