A17T (p.Ala17Thr) variant of ASXL1 (Polycomb group protein ASXL1)
A17T (p.Ala17Thr) 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.
A17T (p.Ala17Thr) variant details
- p.Ala17Thr
- gnomAD 20-32358824-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.15
- CADD 24.80
- PolyPhen-2 0.70
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available