A16T (p.Ala16Thr) variant of ASXL1 (Polycomb group protein ASXL1)
A16T (p.Ala16Thr) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- gnomAD 20-32358821-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.13
- CADD 23.80
- PolyPhen-2 0.17
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available