Q5P (p.Gln5Pro) variant of ASXL1 (Polycomb group protein ASXL1)
Q5P (p.Gln5Pro) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Q5P (p.Gln5Pro) variant details
- p.Gln5Pro
- rs1470448926
- gnomAD 20-32359333-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- CADD 14.50
- SIFT 0.33
- Most common in the Latino/Admixed American population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available