T135I (p.Thr135Ile) variant of EYS (Protein eyes shut homolog)
T135I (p.Thr135Ile) 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 0.20 / 1. The record also includes population frequency data.
T135I (p.Thr135Ile) variant details
- p.Thr135Ile
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.23
- CADD 13.90
- PolyPhen-2 0.01
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available