A14S (p.Ala14Ser) variant of ASXL1 (Polycomb group protein ASXL1)
A14S (p.Ala14Ser) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A14S (p.Ala14Ser) variant details
- p.Ala14Ser
- gnomAD 20-32358815-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.10
- CADD 25.40
- PolyPhen-2 0.69
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available