K4R (p.Lys4Arg) variant of ASXL1 (Polycomb group protein ASXL1)
K4R (p.Lys4Arg) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
K4R (p.Lys4Arg) variant details
- p.Lys4Arg
- gnomAD 20-32358786-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.10
- CADD 21.90
- PolyPhen-2 0.21
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available