H134Y (p.His134Tyr) variant of EYS (Protein eyes shut homolog)
H134Y (p.His134Tyr) 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 specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data.
H134Y (p.His134Tyr) variant details
- p.His134Tyr
- rs765304266
- ClinGen CA3878077
- NCI-TCGA Cosmic COSV6100
- ClinVar RCV003076723
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.09
- CADD 10.60
- PolyPhen-2 0.03
- SIFT 0.05
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available