S25I (p.Ser25Ile) variant of ASXL1 (Polycomb group protein ASXL1)
S25I (p.Ser25Ile) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S25I (p.Ser25Ile) variant details
- p.Ser25Ile
- gnomAD 20-32359315-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- CADD 13.60
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available