K4Q (p.Lys4Gln) variant of ASXL1 (Polycomb group protein ASXL1)
K4Q (p.Lys4Gln) 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.
K4Q (p.Lys4Gln) variant details
- p.Lys4Gln
- gnomAD 20-32358785-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.09
- CADD 24.60
- PolyPhen-2 0.89
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available