T12A (p.Thr12Ala) variant of ASXL1 (Polycomb group protein ASXL1)
T12A (p.Thr12Ala) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
T12A (p.Thr12Ala) variant details
- p.Thr12Ala
- gnomAD 20-32358809-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.09
- CADD 24.90
- PolyPhen-2 0.79
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available