E14E (p.Glu14Glu) variant of ASXL3 (Q9C0F0)
E14E (p.Glu14Glu) in ASXL3 (Q9C0F0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E14E (p.Glu14Glu) variant details
- p.Glu14Glu
- rs760699200
- gnomAD 18-33578673-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.457
- CADD 13.70
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available