K7E (p.Lys7Glu) variant of ASXL1 (Polycomb group protein ASXL1)
K7E (p.Lys7Glu) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
K7E (p.Lys7Glu) variant details
- p.Lys7Glu
- gnomAD 20-32358794-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.05
- CADD 24.00
- PolyPhen-2 0.09
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available