Q5R (p.Gln5Arg) variant of ASXL1 (Polycomb group protein ASXL1)
Q5R (p.Gln5Arg) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
Q5R (p.Gln5Arg) variant details
- p.Gln5Arg
- TOPMed rs1254502448
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.08
- CADD 24.60
- PolyPhen-2 0.63
- SIFT 0.01
- Population evidence available
- Structural context available