T12R (p.Thr12Arg) variant of ASXL1 (Polycomb group protein ASXL1)
T12R (p.Thr12Arg) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
T12R (p.Thr12Arg) variant details
- p.Thr12Arg
- gnomAD 20-32358810-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.15
- CADD 29.60
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available