A19A (p.Ala19Ala) variant of ASXL3 (Q9C0F0)
A19A (p.Ala19Ala) in ASXL3 (Q9C0F0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A19A (p.Ala19Ala) variant details
- p.Ala19Ala
- gnomAD 18-33607596-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.555
- CADD 16.90
- Population evidence available
- Structural context available
- Literature evidence available