E100* (p.Glu100Ter) variant of EYS (Protein eyes shut homolog)
E100* (p.Glu100Ter) in EYS (Protein eyes shut homolog) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
E100* (p.Glu100Ter) variant details
- p.Glu100Ter
- rs2533029288
- ClinGen CA364790218
- ClinVar RCV003682197
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.465
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available