p.Lys8 Lys9del variant of ASXL1 (Polycomb group protein ASXL1)
p.Lys8 Lys9del in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
p.Lys8 Lys9del variant details
- rs752094508
- gnomAD 20-32358788-CAGAA
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.634
- CADD 18.20
- Most common in the African/African-American population (allele frequency 4.9e-05)
- Structural context available
- Literature evidence available