K9del (p.Lys9del) variant of ASXL1 (Polycomb group protein ASXL1)
K9del (p.Lys9del) 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.
K9del (p.Lys9del) variant details
- rs752094508
- gnomAD 20-32358788-CAGA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.643
- CADD 19.30
- Most common in the 1KG:FIN population (allele frequency 0.0052)
- Structural context available
- Literature evidence available