A14T (p.Ala14Thr) variant of ASXL1 (Polycomb group protein ASXL1)
A14T (p.Ala14Thr) 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.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- gnomAD 20-32358815-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.13
- CADD 26.70
- PolyPhen-2 0.88
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available