A17E (p.Ala17Glu) variant of ASXL1 (Polycomb group protein ASXL1)
A17E (p.Ala17Glu) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A17E (p.Ala17Glu) variant details
- p.Ala17Glu
- gnomAD 20-32358825-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.19
- CADD 23.30
- PolyPhen-2 0.87
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available