T11P (p.Thr11Pro) variant of ASXL3 (Q9C0F0)
T11P (p.Thr11Pro) in ASXL3 (Q9C0F0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
T11P (p.Thr11Pro) variant details
- p.Thr11Pro
- gnomAD 18-33578660-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.541
- CADD 24.60
- Population evidence available
- Structural context available
- Literature evidence available