A16S (p.Ala16Ser) variant of ASXL1 (Polycomb group protein ASXL1)
A16S (p.Ala16Ser) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A16S (p.Ala16Ser) variant details
- p.Ala16Ser
- gnomAD 20-32358821-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.14
- CADD 23.70
- PolyPhen-2 0.61
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available