L96I (p.Leu96Ile) variant of EYS (Protein eyes shut homolog)
L96I (p.Leu96Ile) 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 0.28 / 1. The record also includes population frequency data.
L96I (p.Leu96Ile) variant details
- p.Leu96Ile
- NCI-TCGA Cosmic COSV1044
- cosmic curated COSV10968
- TOPMed rs2077590851
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.25
- CADD 23.50
- PolyPhen-2 0.78
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available