E10K (p.Glu10Lys) variant of ASXL1 (Polycomb group protein ASXL1)
E10K (p.Glu10Lys) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E10K (p.Glu10Lys) variant details
- p.Glu10Lys
- gnomAD 20-32358803-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.04
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available