D3T (p.Asp3Thr) variant of ASXL3 (Q9C0F0)
D3T (p.Asp3Thr) in ASXL3 (Q9C0F0) is a protein-truncating 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.
D3T (p.Asp3Thr) variant details
- p.Asp3Thr
- gnomAD 18-33578634-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.629
- CADD 24.50
- Population evidence available
- Structural context available
- Literature evidence available