T12M (p.Thr12Met) variant of ASXL1 (Polycomb group protein ASXL1)
T12M (p.Thr12Met) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
T12M (p.Thr12Met) variant details
- p.Thr12Met
- gnomAD 20-32358810-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.10
- CADD 25.00
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available