C217F (p.Cys217Phe) variant of EYS (Protein eyes shut homolog)
C217F (p.Cys217Phe) 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 0.40 / 1. The record also includes population frequency data.
C217F (p.Cys217Phe) variant details
- p.Cys217Phe
- rs1222379109
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10067
- TOPMed rs1222379109
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.51
- CADD 17.60
- PolyPhen-2 0.03
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available