S38* (p.Ser38Ter) variant of EYS (Protein eyes shut homolog)
S38* (p.Ser38Ter) 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 0.75 / 1. The record also includes population frequency data.
S38* (p.Ser38Ter) variant details
- p.Ser38Ter
- rs1288767318
- ClinGen CA364790624
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10067
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.746
- CADD 32.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available