Q5H (p.Gln5His) variant of ASXL1 (Polycomb group protein ASXL1)
Q5H (p.Gln5His) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q5H (p.Gln5His) variant details
- p.Gln5His
- gnomAD 20-32358790-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.05
- CADD 26.20
- PolyPhen-2 0.89
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available