C202Y (p.Cys202Tyr) variant of EYS (Protein eyes shut homolog)
C202Y (p.Cys202Tyr) in EYS (Protein eyes shut homolog) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
C202Y (p.Cys202Tyr) variant details
- p.Cys202Tyr
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10067
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.63
- CADD 22.20
- PolyPhen-2 0.97
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available