C114Y (p.Cys114Tyr) variant of EYS (Protein eyes shut homolog)
C114Y (p.Cys114Tyr) in EYS (Protein eyes shut homolog) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and published literature.
C114Y (p.Cys114Tyr) variant details
- p.Cys114Tyr
- rs533909681
- ClinGen CA3878090
- NCI-TCGA Cosmic COSV1006
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.65
- CADD 20.20
- PolyPhen-2 0.46
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)