S25A (p.Ser25Ala) variant of ASXL1 (Polycomb group protein ASXL1)
S25A (p.Ser25Ala) in ASXL1 (Polycomb group protein ASXL1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
S25A (p.Ser25Ala) variant details
- p.Ser25Ala
- gnomAD 20-32359312-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.179
- CADD 13.90
- Population evidence available
- Structural context available
- Literature evidence available