E35* (p.Glu35Ter) variant of KDM6A (Lysine-specific demethylase 6A)
E35* (p.Glu35Ter) in KDM6A (Lysine-specific demethylase 6A) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E35* (p.Glu35Ter) variant details
- p.Glu35Ter
- TOPMed rs2031081534
- gnomAD rs2031081534
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.392
- CADD 36.00
- Most common in the REMAINING population (allele frequency 0.00066)
- Structural context available