A13P (p.Ala13Pro) variant of ASXL3 (Q9C0F0)
A13P (p.Ala13Pro) in ASXL3 (Q9C0F0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A13P (p.Ala13Pro) variant details
- p.Ala13Pro
- gnomAD 18-33578665-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.466
- CADD 27.40
- Population evidence available
- Structural context available
- Literature evidence available