H186Y (p.His186Tyr) variant of EYS (Protein eyes shut homolog)
H186Y (p.His186Tyr) 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 0.31 / 1. The record also includes population frequency data.
H186Y (p.His186Tyr) variant details
- p.His186Tyr
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10067
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.35
- CADD 15.40
- PolyPhen-2 0.25
- SIFT 0.29
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available