Q5L (p.Gln5Leu) variant of ASXL1 (Polycomb group protein ASXL1)
Q5L (p.Gln5Leu) 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.
Q5L (p.Gln5Leu) variant details
- p.Gln5Leu
- rs905152720
- gnomAD 20-32359790-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- MetaLR 0.02
- MetaSVM -0.98
- CADD 12.90
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available