G132E (p.Gly132Glu) variant of EYS (Protein eyes shut homolog)
G132E (p.Gly132Glu) in EYS (Protein eyes shut homolog) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
G132E (p.Gly132Glu) variant details
- p.Gly132Glu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.39
- CADD 18.40
- PolyPhen-2 0.41
- SIFT 0.00
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available