K6K (p.Lys6Lys) variant of ASXL1 (Polycomb group protein ASXL1)
K6K (p.Lys6Lys) in ASXL1 (Polycomb group protein ASXL1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
K6K (p.Lys6Lys) variant details
- p.Lys6Lys
- rs2048056489
- gnomAD 20-32358793-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.364
- CADD 14.30
- Most common in the East Asian population (allele frequency 0.00016)
- Structural context available
- Literature evidence available