C244Y (p.Cys244Tyr) variant of EYS (Protein eyes shut homolog)
C244Y (p.Cys244Tyr) in EYS (Protein eyes shut homolog) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
C244Y (p.Cys244Tyr) variant details
- p.Cys244Tyr
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10067
- Ensembl rs1766174358
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.59
- CADD 19.50
- PolyPhen-2 0.11
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available