K2K (p.Lys2Lys) variant of ASXL1 (Polycomb group protein ASXL1)
K2K (p.Lys2Lys) in ASXL1 (Polycomb group protein ASXL1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
K2K (p.Lys2Lys) variant details
- p.Lys2Lys
- rs1192589790
- gnomAD 20-32358781-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.592
- CADD 13.80
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available