A16V (p.Ala16Val) variant of ASXL1 (Polycomb group protein ASXL1)
A16V (p.Ala16Val) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- gnomAD 20-32358822-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.17
- CADD 23.60
- PolyPhen-2 0.11
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available