T12K (p.Thr12Lys) variant of ASXL1 (Polycomb group protein ASXL1)
T12K (p.Thr12Lys) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
T12K (p.Thr12Lys) variant details
- p.Thr12Lys
- gnomAD 20-32358810-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.15
- CADD 24.90
- PolyPhen-2 0.98
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available