Y210* (p.Tyr210Ter) variant of EYS (Protein eyes shut homolog)
Y210* (p.Tyr210Ter) 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 0.33 / 1. The record also includes population frequency data.
Y210* (p.Tyr210Ter) variant details
- p.Tyr210Ter
- rs1469481918
- ClinGen CA364789488
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10067
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available