K8R (p.Lys8Arg) variant of ASXL1 (Polycomb group protein ASXL1)
K8R (p.Lys8Arg) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
K8R (p.Lys8Arg) variant details
- p.Lys8Arg
- gnomAD 20-32358798-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.07
- CADD 24.00
- PolyPhen-2 0.21
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available