E15E (p.Glu15Glu) variant of ASXL1 (Polycomb group protein ASXL1)
E15E (p.Glu15Glu) in ASXL1 (Polycomb group protein ASXL1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
E15E (p.Glu15Glu) variant details
- p.Glu15Glu
- rs1388766224
- gnomAD 20-32358820-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.497
- CADD 13.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available