K4M (p.Lys4Met) variant of ASXL3 (Q9C0F0)
K4M (p.Lys4Met) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
K4M (p.Lys4Met) variant details
- p.Lys4Met
- gnomAD 18-33578642-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.98
- CADD 25.00
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available