K2E (p.Lys2Glu) variant of ASXL1 (Polycomb group protein ASXL1)
K2E (p.Lys2Glu) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
K2E (p.Lys2Glu) variant details
- p.Lys2Glu
- gnomAD 20-32358779-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.09
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available