E44* (p.Glu44Ter) variant of KDM6A (Lysine-specific demethylase 6A)
E44* (p.Glu44Ter) in KDM6A (Lysine-specific demethylase 6A) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
E44* (p.Glu44Ter) variant details
- p.Glu44Ter
- gnomAD X-44873681-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.612
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available