p.Lys9dup variant of ASXL1 (Polycomb group protein ASXL1)
p.Lys9dup in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
p.Lys9dup variant details
- rs752094508
- gnomAD 20-32358788-C-CAG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.636
- CADD 18.40
- Most common in the Non-Finnish European population (allele frequency 9.7e-07)
- Structural context available
- Literature evidence available