S7* (p.Ser7Ter) variant of KDM6A (Lysine-specific demethylase 6A)
S7* (p.Ser7Ter) in KDM6A (Lysine-specific demethylase 6A) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
S7* (p.Ser7Ter) variant details
- p.Ser7Ter
- gnomAD X-44873571-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.78
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available