E15Q (p.Glu15Gln) variant of ASXL1 (Polycomb group protein ASXL1)
E15Q (p.Glu15Gln) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E15Q (p.Glu15Gln) variant details
- p.Glu15Gln
- gnomAD 20-32358818-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.08
- CADD 25.50
- PolyPhen-2 0.55
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available