K8N (p.Lys8Asn) variant of ASXL1 (Polycomb group protein ASXL1)
K8N (p.Lys8Asn) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
K8N (p.Lys8Asn) variant details
- p.Lys8Asn
- gnomAD 20-32358799-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.09
- CADD 26.90
- PolyPhen-2 0.94
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available