S78* (p.Ser78Ter) variant of WDR45 (Q9Y484)
S78* (p.Ser78Ter) in WDR45 (Q9Y484) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
S78* (p.Ser78Ter) variant details
- p.Ser78Ter
- gnomAD X-49076810-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.665
- CADD 16.90
- Population evidence available
- Structural context available
- Literature evidence available