E47* (p.Glu47Ter) variant of KDM6A (Lysine-specific demethylase 6A)
E47* (p.Glu47Ter) in KDM6A (Lysine-specific demethylase 6A) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
E47* (p.Glu47Ter) variant details
- p.Glu47Ter
- gnomAD X-44873690-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.727
- CADD 39.00
- Population evidence available
- Structural context available
- Literature evidence available