K6M (p.Lys6Met) variant of ASXL1 (Polycomb group protein ASXL1)
K6M (p.Lys6Met) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
K6M (p.Lys6Met) variant details
- p.Lys6Met
- gnomAD 20-32358792-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.11
- CADD 26.30
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available