K2R (p.Lys2Arg) variant of ASXL1 (Polycomb group protein ASXL1)
K2R (p.Lys2Arg) in ASXL1 (Polycomb group protein ASXL1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
K2R (p.Lys2Arg) variant details
- p.Lys2Arg
- TOPMed rs2048056155
- gnomAD rs2048056155
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.10
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.88
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available