D3Y (p.Asp3Tyr) variant of ASXL1 (Polycomb group protein ASXL1)
D3Y (p.Asp3Tyr) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
D3Y (p.Asp3Tyr) variant details
- p.Asp3Tyr
- gnomAD rs1362206875
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.15
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 3.1e-05)
- Structural context available