V7I (p.Val7Ile) variant of EYS (Protein eyes shut homolog)
V7I (p.Val7Ile) in EYS (Protein eyes shut homolog) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data.
V7I (p.Val7Ile) variant details
- p.Val7Ile
- rs377622148
- ClinGen CA140434994
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV60976
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.16
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.92
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available