K8K (p.Lys8Lys) variant of ASXL1 (Polycomb group protein ASXL1)
K8K (p.Lys8Lys) in ASXL1 (Polycomb group protein ASXL1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
K8K (p.Lys8Lys) variant details
- p.Lys8Lys
- rs1420153033
- gnomAD 20-32358799-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.599
- CADD 14.80
- Most common in the South Asian population (allele frequency 4e-05)
- Structural context available
- Literature evidence available