V106I (p.Val106Ile) variant of EYS (Protein eyes shut homolog)
V106I (p.Val106Ile) 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 0.30 / 1. The record also includes population frequency data.
V106I (p.Val106Ile) variant details
- p.Val106Ile
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10067
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.18
- CADD 18.10
- PolyPhen-2 0.12
- SIFT 0.09
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available