R11G (p.Arg11Gly) variant of ASXL1 (Polycomb group protein ASXL1)
R11G (p.Arg11Gly) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R11G (p.Arg11Gly) variant details
- p.Arg11Gly
- gnomAD 20-32359771-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- MetaLR 0.03
- MetaSVM -0.99
- CADD 15.70
- SIFT 0.04
- Most common in the East Asian population (allele frequency 3.1e-05)
- Structural context available
- Literature evidence available