A14D (p.Ala14Asp) variant of ASXL1 (Polycomb group protein ASXL1)
A14D (p.Ala14Asp) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A14D (p.Ala14Asp) variant details
- p.Ala14Asp
- gnomAD 20-32358816-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.19
- CADD 25.50
- PolyPhen-2 0.92
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available