Q5E (p.Gln5Glu) variant of ASXL1 (Polycomb group protein ASXL1)
Q5E (p.Gln5Glu) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
Q5E (p.Gln5Glu) variant details
- p.Gln5Glu
- rs1361350029
- gnomAD 20-32359789-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- MetaLR 0.02
- MetaSVM -0.95
- CADD 9.67
- SIFT 0.66
- Most common in the East Asian population (allele frequency 6.2e-05)
- Structural context available
- Literature evidence available