Q5Q (p.Gln5Gln) variant of ASXL1 (Polycomb group protein ASXL1)
Q5Q (p.Gln5Gln) in ASXL1 (Polycomb group protein ASXL1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
Q5Q (p.Gln5Gln) variant details
- p.Gln5Gln
- gnomAD 20-32358790-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.589
- CADD 13.40
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available