T12S (p.Thr12Ser) variant of ASXL1 (Polycomb group protein ASXL1)
T12S (p.Thr12Ser) 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.
T12S (p.Thr12Ser) variant details
- p.Thr12Ser
- gnomAD 20-32358809-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.10
- CADD 24.40
- PolyPhen-2 0.91
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available