E127* (p.Glu127Ter) variant of CASK (O14936)
E127* (p.Glu127Ter) in CASK (O14936) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
E127* (p.Glu127Ter) variant details
- p.Glu127Ter
- cosmic curated COSV10810
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.0865
- CADD 0.83
- Population evidence available
- Structural context available