K2M (p.Lys2Met) variant of ASXL1 (Polycomb group protein ASXL1)
K2M (p.Lys2Met) in ASXL1 (Polycomb group protein ASXL1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
K2M (p.Lys2Met) variant details
- p.Lys2Met
- TOPMed rs2048056155
- gnomAD rs2048056155
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.08
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available