Y54* (p.Tyr54Ter) variant of EYS (Protein eyes shut homolog)
Y54* (p.Tyr54Ter) in EYS (Protein eyes shut homolog) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data.
Y54* (p.Tyr54Ter) variant details
- p.Tyr54Ter
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10067
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.334
- CADD 27.80
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available