K2N (p.Lys2Asn) variant of ASXL1 (Polycomb group protein ASXL1)
K2N (p.Lys2Asn) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
K2N (p.Lys2Asn) variant details
- p.Lys2Asn
- gnomAD 20-32358781-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.07
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available