E15* (p.Glu15Ter) variant of KDM6B (Lysine-specific demethylase 6B)
E15* (p.Glu15Ter) in KDM6B (Lysine-specific demethylase 6B) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
E15* (p.Glu15Ter) variant details
- p.Glu15Ter
- gnomAD 17-7845597-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.917
- CADD 41.00
- Population evidence available
- Structural context available
- Literature evidence available