Q5K (p.Gln5Lys) variant of ASXL1 (Polycomb group protein ASXL1)
Q5K (p.Gln5Lys) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
Q5K (p.Gln5Lys) variant details
- p.Gln5Lys
- gnomAD 20-32359789-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- MetaLR 0.01
- MetaSVM -0.95
- CADD 9.50
- SIFT 0.63
- Most common in the Non-Finnish European population (allele frequency 3.2e-06)
- Structural context available
- Literature evidence available