S26* (p.Ser26Ter) variant of ASXL3 (Q9C0F0)
S26* (p.Ser26Ter) in ASXL3 (Q9C0F0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
S26* (p.Ser26Ter) variant details
- p.Ser26Ter
- gnomAD 18-33607616-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.85
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available